JoGo LogoJoint Open Genome and Omics Platform (JoGo)
  • Home
    • General
    • Gene
    • Region
    • Variant
    • Haplotype
    • Haplotype by sample
    • ClinVar
    • GWASCatalog
    • GTEx
    • HaplotypeQTL
    • Haplotype
    • Position
    • Clinvar
    • Gene
    • Variant
    • Haplotype
    • Sample
    • FAQ
    • Contact
    • Fundings
    • Developer
    • ChIP-Atlas PeakBrowser
    • ToGoVAR
    • MGeND
    • Nagasaki Lab

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   COL18A1_chr21_45400165_45518720  COL18A1_chr21_45400165_45518720 (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 80781
ensemblid ENSG00000182871.16
hgncid 2195
symbol COL18A1
name collagen type XVIII alpha 1 chain
refseq_nuc NM_001379500.1
refseq_prot NP_001366429.1
ensembl_nuc ENST00000651438.1
ensembl_prot ENSP00000498485.1
mane_status MANE Select
chr chr21
start 45405165
end 45513720
strand +
ver v1.2
region chr21:45405165-45513720
region5000 chr21:45400165-45518720
regionname0 COL18A1_chr21_45405165_45513720
regionname5000 COL18A1_chr21_45400165_45518720

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 1336 200 47 43 75 9 26 44 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002 0/0 1336 14 8 3 0 0 3 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003 0/0 1336 14 0 1 10 0 3 9 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004 0/0 1339 6 6 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005 1/0 1339 5 1 0 3 0 0 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006 0/1 1336 5 1 1 0 0 2 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007 0/0 1336 5 0 0 5 0 0 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0008 0/0 1336 4 4 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0009 0/0 1336 3 0 2 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0010 0/0 1336 3 0 0 3 0 0 3 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0011 0/0 1336 3 3 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0012 0/0 1339 2 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0013 0/0 1336 2 2 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0014 0/0 1339 2 2 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0015 0/0 1336 2 0 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0016 0/0 1336 1 0 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0017 0/0 1336 1 0 0 1 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0018 0/0 1339 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0019 0/0 1336 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0020 0/0 1333 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0021 0/0 810 1 0 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0022 0/0 1339 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0023 0/0 1339 1 0 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0024 0/0 1336 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0025 0/0 1339 1 0 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0026 0/0 1333 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0027 0/0 901 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0028 0/0 1336 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0029 0/0 1336 1 0 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0030 0/0 1336 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0031 0/0 1336 1 0 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0032 0/0 1333 1 0 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0033 0/0 1336 1 0 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0034 0/0 1336 1 0 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0035 0/0 1336 1 0 0 1 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0036 0/0 1339 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0037 0/0 1336 1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 4011 40 9 7 16 1 7 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0002 0/0 4011 33 1 5 16 5 6 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0003 0/0 4011 21 3 8 7 1 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0004 0/0 4011 21 6 1 10 0 4 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0005 0/0 4011 12 0 2 8 0 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0006 0/0 4011 7 1 6 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0007 0/0 4011 6 1 2 2 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0008 0/0 4011 5 0 5 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0009 0/0 4011 4 0 0 3 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0010 0/0 4011 4 0 0 3 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0011 0/0 4011 4 3 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0012 0/0 4011 4 3 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0013 0/0 4011 4 0 2 0 1 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0014 0/0 4011 3 0 0 3 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0015 0/0 4011 3 0 0 3 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0016 0/0 4011 3 0 2 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0017 0/0 4011 3 1 1 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0018 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0019 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0020 0/0 4011 3 1 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0021 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0022 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0023 0/0 4020 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0024 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0025 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0026 0/1 4011 2 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0027 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0028 0/0 4011 2 1 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0029 0/0 4011 2 0 0 0 2 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0030 0/0 4011 2 0 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0031 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0032 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0033 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0034 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0035 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0036 0/0 4020 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0037 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0038 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0039 0/0 4020 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0040 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0041 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0042 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0043 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0044 0/0 4002 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0045 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0046 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0047 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0048 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0049 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0050 0/0 4020 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0051 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0052 0/0 4002 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0053 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0054 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0055 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0056 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0057 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0058 0/0 4020 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0059 1/0 4020 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0060 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0061 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0062 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0063 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0064 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0065 0/0 4020 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0066 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0067 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0068 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0069 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0070 0/0 3983 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0071 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0072 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0073 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0074 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0075 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0076 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0077 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0078 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0079 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0080 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0081 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0082 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0083 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0084 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0085 0/0 4020 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0086 0/0 3995 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0087 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0088 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0089 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0090 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0091 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0092 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0093 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0094 0/0 4002 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0095 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0096 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0097 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0098 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0099 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0100 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0101 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0102 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0103 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
c0104 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 1391 144 44 23 56 3 18 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0002 1/0 1389 83 9 22 30 6 15 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0003 0/1 1389 26 9 6 5 3 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0004 0/0 1391 13 10 0 0 0 3 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0005 0/0 1391 5 5 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0006 0/0 1389 5 0 0 5 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0007 0/0 1389 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0008 0/0 1391 2 1 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0009 0/0 1391 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0010 0/0 1391 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0011 0/0 1391 2 1 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0012 0/0 1391 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0013 0/0 1391 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0014 0/0 1389 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0015 0/0 1391 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0016 0/0 1391 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
t0017 0/0 1389 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0002 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0003 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0004 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0005 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0006 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0007 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0008 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0009 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0010 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0011 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0012 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0013 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0014 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0015 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0016 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0017 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0018 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0019 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0020 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0021 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0022 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0023 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0024 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0025 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0026 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0027 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0028 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0029 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0030 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0031 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0032 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0033 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0034 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0035 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0036 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0037 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0038 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0039 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0040 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0041 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0042 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0043 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0044 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0045 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0046 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0047 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0048 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0049 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0050 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0051 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0052 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0053 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0054 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0055 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0056 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0057 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0058 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0059 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0060 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0061 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0062 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0063 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0064 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0065 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0066 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0067 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0068 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0069 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0070 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0071 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0072 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0073 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0074 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0075 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0076 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0077 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0078 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0079 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0080 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0081 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0082 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0083 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0084 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0085 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0086 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0087 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0088 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0089 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0090 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0091 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0092 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0093 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0094 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0095 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0096 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0097 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0098 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0099 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0100 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0101 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0102 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0103 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0104 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0105 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0106 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0107 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0108 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0109 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0110 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0111 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0112 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0113 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0114 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0115 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0116 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0117 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0118 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0119 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0120 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0121 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0122 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0123 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0124 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0125 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0126 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0127 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0128 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0129 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0130 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0131 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0132 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0133 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0134 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0135 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0136 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0137 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0138 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0139 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0140 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0141 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0142 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0143 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0144 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0145 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0146 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0147 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0148 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0149 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0150 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0151 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0152 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0153 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0154 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0155 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0156 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0157 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0158 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0159 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0160 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0161 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0162 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0163 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0164 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0165 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0166 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0167 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0168 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0169 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0170 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0171 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0172 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0173 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0174 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0175 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0176 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0177 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0178 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0179 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0180 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0181 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0182 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0183 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0184 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0185 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0186 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0187 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0188 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0189 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0190 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0191 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0192 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0193 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0194 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0195 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0196 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0197 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0198 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0199 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0200 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0201 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0202 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0203 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0204 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0205 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0206 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0207 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0208 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0209 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0210 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0211 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0212 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0213 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0214 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0215 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0216 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0217 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0218 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0219 0/1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0220 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0221 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0222 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0223 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0224 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0225 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0226 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0227 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0228 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0229 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0230 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0231 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0232 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0233 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0234 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0235 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0236 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0237 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0238 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0239 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0240 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0241 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0242 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0243 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0244 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0245 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0246 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0247 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0248 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0249 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0250 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0251 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0252 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0253 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0254 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0255 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0256 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0257 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0258 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0259 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0260 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0261 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0262 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0263 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0264 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0265 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0266 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0267 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0268 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0269 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0270 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0271 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0272 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0273 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0274 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0275 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0276 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0277 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0278 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0279 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0280 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0281 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0282 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0283 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0284 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0285 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0286 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0287 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0288 1/0 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0289 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0290 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0291 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
g0292 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 4011 40 9 7 16 1 7 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002 0/0 4011 33 1 5 16 5 6 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0003 0/0 4011 21 3 8 7 1 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0004 0/0 4011 21 6 1 10 0 4 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0005 0/0 4011 12 0 2 8 0 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0006 0/0 4011 7 1 6 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0007 0/0 4011 6 1 2 2 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0008 0/0 4011 5 0 5 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0011 0/0 4011 4 3 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0013 0/0 4011 4 0 2 0 1 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0017 0/0 4011 3 1 1 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0019 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0022 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0024 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0025 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0027 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0030 0/0 4011 2 0 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0032 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0033 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0035 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0037 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0038 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0041 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0053 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0054 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0055 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0061 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0062 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0063 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0064 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0069 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0073 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0074 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0079 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0080 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0081 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0082 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0087 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0089 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0090 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0093 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0098 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0012 0/0 4011 4 3 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0020 0/0 4011 3 1 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0021 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0067 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0083 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0084 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0103 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0009 0/0 4011 4 0 0 3 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0010 0/0 4011 4 0 0 3 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0015 0/0 4011 3 0 0 3 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0045 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0046 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0047 0/0 4011 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0023 0/0 4020 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0057 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0091 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0099 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0100 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0036 0/0 4020 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0058 0/0 4020 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0059 1/0 4020 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0060 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0026 0/1 4011 2 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0028 0/0 4011 2 1 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0072 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007c0031 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007c0034 0/0 4011 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007c0076 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0008c0018 0/0 4011 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0008c0101 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0009c0016 0/0 4011 3 0 2 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0010c0014 0/0 4011 3 0 0 3 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0011c0040 0/0 4011 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0011c0104 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0012c0065 0/0 4020 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0012c0088 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0013c0051 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0013c0102 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0014c0039 0/0 4020 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0015c0029 0/0 4011 2 0 0 0 2 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0016c0042 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0017c0043 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0018c0095 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0019c0096 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0020c0094 0/0 4002 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0021c0086 0/0 3995 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0022c0068 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0023c0085 0/0 4020 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0024c0066 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0025c0050 0/0 4020 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0026c0044 0/0 4002 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0027c0070 0/0 3983 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0028c0097 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0029c0071 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0030c0056 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0031c0092 0/0 4011 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0032c0052 0/0 4002 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0033c0077 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0034c0075 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0035c0078 0/0 4011 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0036c0048 0/0 4020 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0037c0049 0/0 4011 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 5401 36 9 6 15 1 5 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0001t0002 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0001t0004 0/0 5401 2 0 0 0 0 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0001t0013 0/0 5401 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002t0001 0/0 5401 3 0 0 0 1 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002t0002 0/0 5399 26 0 5 13 4 4 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002t0003 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002t0006 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002t0012 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0002t0017 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0003t0001 0/0 5401 19 3 8 5 1 2 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0003t0003 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0003t0008 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0004t0001 0/0 5401 20 5 1 10 0 4 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0004t0016 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0005t0002 0/0 5399 7 0 2 4 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0005t0003 0/0 5399 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0005t0006 0/0 5399 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0005t0007 0/0 5399 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0006t0003 0/0 5399 7 1 6 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0007t0002 0/0 5399 6 1 2 2 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0008t0002 0/0 5399 5 0 5 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0011t0001 0/0 5401 4 3 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0013t0002 0/0 5399 3 0 1 0 1 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0013t0014 0/0 5399 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0017t0002 0/0 5399 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0017t0003 0/0 5399 2 1 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0019t0003 0/0 5399 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0022t0001 0/0 5401 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0024t0001 0/0 5401 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0025t0002 0/0 5399 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0027t0001 0/0 5401 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0030t0002 0/0 5399 2 0 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0032t0001 0/0 5401 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0033t0002 0/0 5399 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0035t0001 0/0 5401 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0037t0001 0/0 5401 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0038t0004 0/0 5401 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0041t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0053t0001 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0054t0002 0/0 5399 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0055t0003 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0061t0001 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0062t0002 0/0 5399 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0063t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0064t0001 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0069t0005 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0073t0003 0/0 5399 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0074t0004 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0079t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0080t0004 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0081t0003 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0082t0008 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0087t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0089t0001 0/0 5401 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0090t0002 0/0 5399 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0093t0001 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0001c0098t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0012t0004 0/0 5401 4 3 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0020t0001 0/0 5401 2 0 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0020t0003 0/0 5399 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0021t0002 0/0 5399 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0067t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0083t0001 0/0 5401 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0084t0002 0/0 5399 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0002c0103t0001 0/0 5401 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0009t0001 0/0 5401 4 0 0 3 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0010t0002 0/0 5399 3 0 0 2 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0010t0006 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0015t0001 0/0 5401 3 0 0 3 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0045t0006 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0046t0001 0/0 5401 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0003c0047t0001 0/0 5401 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0023t0002 0/0 5408 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0057t0002 0/0 5408 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0091t0001 0/0 5410 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0099t0003 0/0 5408 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0004c0100t0001 0/0 5410 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0036t0001 0/0 5410 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0058t0001 0/0 5410 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0059t0002 1/0 5408 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0005c0060t0001 0/0 5410 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0026t0001 0/0 5401 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0026t0003 0/1 5399 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0028t0003 0/0 5399 2 1 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0006c0072t0002 0/0 5399 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007c0031t0002 0/0 5399 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007c0034t0001 0/0 5401 2 0 0 2 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0007c0076t0002 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0008c0018t0005 0/0 5401 3 3 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0008c0101t0005 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0009c0016t0001 0/0 5401 2 0 2 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0009c0016t0002 0/0 5399 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0010c0014t0001 0/0 5401 3 0 0 3 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0011c0040t0001 0/0 5401 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0011c0104t0002 0/0 5399 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0012c0065t0002 0/0 5408 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0012c0088t0002 0/0 5408 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0013c0051t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0013c0102t0004 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0014c0039t0009 0/0 5410 2 2 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0015c0029t0003 0/0 5399 2 0 0 0 2 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0016c0042t0001 0/0 5401 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0017c0043t0002 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0018c0095t0001 0/0 5410 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0019c0096t0015 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0020c0094t0011 0/0 5392 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0021c0086t0002 0/0 5383 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0022c0068t0010 0/0 5410 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0023c0085t0002 0/0 5408 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0024c0066t0010 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0025c0050t0002 0/0 5408 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0026c0044t0001 0/0 5392 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0027c0070t0001 0/0 5373 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0028c0097t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0029c0071t0002 0/0 5399 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0030c0056t0001 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0031c0092t0011 0/0 5401 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0032c0052t0002 0/0 5390 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0033c0077t0003 0/0 5399 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0034c0075t0001 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0035c0078t0001 0/0 5401 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0036c0048t0004 0/0 5410 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720
a0037c0049t0004 0/0 5401 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 copy fasta chr21 45400165 45518720

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0025 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0031 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0033 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0099 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0113 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0120 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0121 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0124 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0125 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0126 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0127 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0128 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0135 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0142 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0149 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0150 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0175 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0191 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0192 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0203 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0228 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0234 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0241 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0243 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0246 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0248 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0250 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0253 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0258 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0266 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0273 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0001g0277 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0002g0278 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0004g0129 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0004g0223 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0001t0013g0276 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0001g0024 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0001g0080 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0001g0095 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0023 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0047 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0060 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0074 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0088 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0091 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0092 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0094 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0102 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0104 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0105 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0107 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0111 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0114 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0117 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0133 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0137 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0140 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0178 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0188 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0231 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0235 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0236 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0238 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0269 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0002g0283 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0003g0143 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0006g0233 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0012g0109 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0002t0017g0216 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0005 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0043 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0048 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0081 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0085 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0086 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0101 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0110 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0145 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0153 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0181 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0182 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0193 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0221 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0249 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0254 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0261 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0287 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0001g0289 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0003g0264 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0003t0008g0166 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0013 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0018 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0022 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0026 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0032 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0064 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0071 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0087 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0090 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0112 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0174 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0213 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0214 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0222 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0225 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0255 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0267 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0271 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0274 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0001g0290 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0004t0016g0051 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0070 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0158 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0217 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0224 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0232 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0239 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0002g0280 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0003g0211 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0006g0173 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0006g0218 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0007g0262 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0005t0007g0263 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0079 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0177 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0180 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0204 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0215 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0259 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0006t0003g0291 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0007t0002g0078 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0007t0002g0161 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0007t0002g0185 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0007t0002g0194 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0007t0002g0208 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0007t0002g0220 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0008t0002g0240 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0008t0002g0260 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0008t0002g0268 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0008t0002g0270 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0008t0002g0272 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0011t0001g0009 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0011t0001g0016 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0011t0001g0017 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0011t0001g0050 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0013t0002g0122 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0013t0002g0206 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0013t0002g0207 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0013t0014g0210 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0017t0002g0179 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0017t0003g0205 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0017t0003g0284 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0019t0003g0065 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0019t0003g0139 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0019t0003g0170 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0022t0001g0008 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0022t0001g0021 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0022t0001g0131 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0024t0001g0229 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0024t0001g0256 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0025t0002g0159 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0025t0002g0164 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0027t0001g0019 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0027t0001g0020 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0030t0002g0285 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0030t0002g0286 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0032t0001g0147 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0032t0001g0162 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0033t0002g0100 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0033t0002g0169 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0035t0001g0072 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0035t0001g0073 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0037t0001g0062 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0037t0001g0157 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0038t0004g0028 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0038t0004g0029 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0041t0001g0155 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0053t0001g0244 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0054t0002g0201 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0055t0003g0152 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0061t0001g0257 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0062t0002g0097 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0063t0001g0144 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0064t0001g0061 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0069t0005g0038 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0073t0003g0034 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0074t0004g0200 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0079t0001g0042 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0080t0004g0057 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0081t0003g0154 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0082t0008g0053 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0087t0001g0055 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0089t0001g0119 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0090t0002g0089 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0093t0001g0251 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0001c0098t0001g0007 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0012t0004g0040 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0012t0004g0049 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0012t0004g0058 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0012t0004g0199 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0020t0001g0010 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0020t0001g0011 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0020t0003g0156 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0021t0002g0001 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0021t0002g0148 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0021t0002g0186 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0067t0001g0041 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0083t0001g0237 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0084t0002g0212 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0002c0103t0001g0136 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0009t0001g0054 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0009t0001g0167 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0009t0001g0171 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0009t0001g0247 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0010t0002g0068 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0010t0002g0151 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0010t0002g0172 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0010t0006g0014 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0015t0001g0168 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0015t0001g0189 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0015t0001g0202 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0045t0006g0242 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0046t0001g0002 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0003c0047t0001g0069 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0004c0023t0002g0138 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0004c0023t0002g0163 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0004c0057t0002g0035 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0004c0091t0001g0056 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0004c0099t0003g0030 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0004c0100t0001g0039 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0005c0036t0001g0245 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0005c0036t0001g0292 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0005c0058t0001g0165 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0005c0059t0002g0288 1/0 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0005c0060t0001g0063 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0006c0026t0001g0083 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0006c0026t0003g0219 0/1 1 0 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0006c0028t0003g0059 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0006c0028t0003g0230 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0006c0072t0002g0082 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0007c0031t0002g0123 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0007c0031t0002g0160 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0007c0034t0001g0141 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0007c0034t0001g0282 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0007c0076t0002g0281 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0008c0018t0005g0067 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0008c0018t0005g0130 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0008c0018t0005g0132 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0008c0101t0005g0027 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0009c0016t0001g0084 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0009c0016t0001g0209 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0009c0016t0002g0252 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0010c0014t0001g0265 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0010c0014t0001g0275 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0010c0014t0001g0279 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0011c0040t0001g0046 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0011c0040t0001g0076 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0011c0104t0002g0003 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0012c0065t0002g0096 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0012c0088t0002g0006 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0013c0051t0001g0195 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0013c0102t0004g0196 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0014c0039t0009g0197 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0014c0039t0009g0198 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0015c0029t0003g0226 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0015c0029t0003g0227 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0016c0042t0001g0118 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0017c0043t0002g0015 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0018c0095t0001g0146 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0019c0096t0015g0045 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0020c0094t0011g0075 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0021c0086t0002g0176 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0022c0068t0010g0004 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0023c0085t0002g0106 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0024c0066t0010g0066 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0025c0050t0002g0108 0/0 1 0 0 0 0 1 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0026c0044t0001g0037 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0027c0070t0001g0012 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0028c0097t0001g0036 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0029c0071t0002g0134 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0030c0056t0001g0044 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0031c0092t0011g0190 0/0 1 0 1 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0032c0052t0002g0077 0/0 1 0 0 0 1 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0033c0077t0003g0098 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0034c0075t0001g0116 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0035c0078t0001g0115 0/0 1 0 0 1 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0036c0048t0004g0184 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
a0037c0049t0004g0183 0/0 1 1 0 0 0 0 COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0013 t0002 g0206 EUR GBR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00099 hp2 a0001 c0003 t0001 g0221 EUR GBR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00140 hp1 a0001 c0002 t0002 g0023 EUR GBR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00140 hp2 a0032 c0052 t0002 g0077 EUR GBR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00280 hp1 a0001 c0017 t0003 g0205 EUR FIN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00280 hp2 a0001 c0002 t0001 g0095 EUR FIN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00323 hp1 a0001 c0002 t0002 g0102 EUR FIN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00323 hp2 a0001 c0002 t0002 g0117 EUR FIN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00408 hp1 a0001 c0002 t0002 g0238 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00408 hp2 a0007 c0031 t0002 g0123 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00423 hp1 a0001 c0004 t0001 g0271 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00423 hp2 a0001 c0002 t0002 g0094 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00438 hp1 a0001 c0025 t0002 g0164 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00438 hp2 a0001 c0004 t0001 g0255 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00544 hp1 a0003 c0010 t0002 g0172 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00544 hp2 a0001 c0004 t0001 g0013 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00558 hp1 a0001 c0024 t0001 g0229 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00558 hp2 a0001 c0001 t0001 g0273 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00597 hp1 a0007 c0034 t0001 g0141 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00597 hp2 a0001 c0025 t0002 g0159 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00609 hp1 a0001 c0004 t0001 g0274 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00609 hp2 a0001 c0053 t0001 g0244 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00621 hp1 a0001 c0001 t0001 g0246 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00621 hp2 a0001 c0093 t0001 g0251 EAS CHS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00639 hp1 a0001 c0008 t0002 g0240 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00639 hp2 a0023 c0085 t0002 g0106 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00642 hp1 a0006 c0072 t0002 g0082 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00642 hp2 a0001 c0013 t0014 g0210 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00733 hp1 a0001 c0017 t0002 g0179 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00733 hp2 a0003 c0046 t0001 g0002 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00735 hp1 a0001 c0002 t0002 g0107 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00735 hp2 a0001 c0003 t0001 g0086 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00738 hp1 a0001 c0007 t0002 g0208 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG00738 hp2 a0001 c0002 t0002 g0140 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01070 hp1 a0001 c0002 t0002 g0178 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01070 hp2 a0009 c0016 t0001 g0084 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01074 hp1 a0001 c0001 t0001 g0099 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01074 hp2 a0002 c0020 t0001 g0011 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01081 hp1 a0002 c0020 t0001 g0010 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01081 hp2 a0001 c0001 t0001 g0128 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01106 hp1 a0001 c0003 t0001 g0085 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01106 hp2 a0001 c0007 t0002 g0220 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01167 hp1 a0002 c0103 t0001 g0136 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01167 hp2 a0001 c0011 t0001 g0050 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01192 hp1 a0001 c0006 t0003 g0215 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01192 hp2 a0029 c0071 t0002 g0134 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01243 hp1 a0001 c0054 t0002 g0201 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01243 hp2 a0001 c0001 t0001 g0120 AMR PUR COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01255 hp1 a0001 c0002 t0002 g0074 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01255 hp2 a0001 c0002 t0002 g0114 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01257 hp1 a0001 c0001 t0001 g0266 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01257 hp2 a0001 c0030 t0002 g0285 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01258 hp1 a0001 c0030 t0002 g0286 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01258 hp2 a0001 c0003 t0001 g0110 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01261 hp1 a0001 c0001 t0001 g0121 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01261 hp2 a0001 c0001 t0001 g0150 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01346 hp1 a0001 c0004 t0001 g0087 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01346 hp2 a0001 c0003 t0001 g0287 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01361 hp1 a0001 c0006 t0003 g0177 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01361 hp2 a0016 c0042 t0001 g0118 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01496 hp1 a0031 c0092 t0011 g0190 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01496 hp2 a0001 c0008 t0002 g0268 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01515 hp1 a0015 c0029 t0003 g0226 EUR IBS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01515 hp2 a0001 c0001 t0001 g0203 EUR IBS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01517 hp1 a0015 c0029 t0003 g0227 EUR IBS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01517 hp2 a0001 c0002 t0002 g0088 EUR IBS COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01891 hp1 a0001 c0019 t0003 g0065 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01891 hp2 a0004 c0023 t0002 g0163 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01928 hp1 a0001 c0006 t0003 g0204 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01928 hp2 a0001 c0001 t0013 g0276 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01943 hp1 a0001 c0003 t0001 g0182 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01943 hp2 a0001 c0006 t0003 g0259 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01978 hp1 a0001 c0008 t0002 g0272 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01978 hp2 a0001 c0013 t0002 g0207 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01981 hp1 a0001 c0006 t0003 g0180 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01981 hp2 a0001 c0005 t0002 g0224 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01993 hp1 a0001 c0006 t0003 g0079 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01993 hp2 a0001 c0003 t0001 g0261 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02004 hp1 a0001 c0008 t0002 g0270 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02004 hp2 a0001 c0003 t0001 g0254 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02040 hp1 a0001 c0005 t0002 g0232 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02040 hp2 a0001 c0002 t0002 g0133 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02055 hp1 a0001 c0007 t0002 g0194 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02055 hp2 a0001 c0003 t0001 g0005 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02071 hp1 a0001 c0005 t0002 g0070 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02071 hp2 a0001 c0004 t0001 g0222 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02080 hp1 a0001 c0005 t0006 g0218 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02080 hp2 a0001 c0004 t0001 g0290 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02083 hp1 a0001 c0024 t0001 g0256 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02083 hp2 a0005 c0036 t0001 g0245 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02129 hp1 a0001 c0007 t0002 g0185 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02129 hp2 a0001 c0007 t0002 g0161 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02132 hp1 a0034 c0075 t0001 g0116 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02132 hp2 a0001 c0002 t0002 g0231 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02135 hp1 a0001 c0003 t0001 g0289 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02135 hp2 a0001 c0064 t0001 g0061 EAS KHV COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02145 hp1 a0001 c0041 t0001 g0155 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02145 hp2 a0001 c0001 t0001 g0142 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02155 hp1 a0001 c0002 t0002 g0137 EAS CDX COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02155 hp2 a0001 c0003 t0008 g0166 EAS CDX COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02165 hp1 a0001 c0001 t0001 g0234 EAS CDX COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02165 hp2 a0001 c0005 t0007 g0263 EAS CDX COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02257 hp1 a0027 c0070 t0001 g0012 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02257 hp2 a0013 c0051 t0001 g0195 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02258 hp1 a0001 c0027 t0001 g0019 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02258 hp2 a0011 c0040 t0001 g0046 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02273 hp1 a0001 c0008 t0002 g0260 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02273 hp2 a0001 c0005 t0002 g0239 AMR PEL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02280 hp1 a0019 c0096 t0015 g0045 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02280 hp2 a0002 c0067 t0001 g0041 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02451 hp1 a0004 c0091 t0001 g0056 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02451 hp2 a0001 c0098 t0001 g0007 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02572 hp1 a0001 c0038 t0004 g0028 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02572 hp2 a0011 c0040 t0001 g0076 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02602 hp1 a0001 c0001 t0001 g0241 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02602 hp2 a0001 c0003 t0001 g0043 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02615 hp1 a0001 c0017 t0003 g0284 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02615 hp2 a0001 c0004 t0001 g0026 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02622 hp1 a0001 c0038 t0004 g0029 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02622 hp2 a0002 c0012 t0004 g0199 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02630 hp1 a0014 c0039 t0009 g0198 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02630 hp2 a0008 c0018 t0005 g0130 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02647 hp1 a0001 c0011 t0001 g0017 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02647 hp2 a0006 c0028 t0003 g0059 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02683 hp1 a0003 c0010 t0002 g0068 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02683 hp2 a0001 c0001 t0001 g0113 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02698 hp1 a0001 c0062 t0002 g0097 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02698 hp2 a0001 c0090 t0002 g0089 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02717 hp1 a0020 c0094 t0011 g0075 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02717 hp2 a0011 c0104 t0002 g0003 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02723 hp1 a0001 c0019 t0003 g0139 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02723 hp2 a0001 c0027 t0001 g0020 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02735 hp1 a0001 c0005 t0003 g0211 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02735 hp2 a0001 c0002 t0002 g0047 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02809 hp1 a0036 c0048 t0004 g0184 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02809 hp2 a0001 c0002 t0012 g0109 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02818 hp1 a0001 c0082 t0008 g0053 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02818 hp2 a0001 c0001 t0001 g0191 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02886 hp1 a0037 c0049 t0004 g0183 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02886 hp2 a0002 c0012 t0004 g0040 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02895 hp1 a0013 c0102 t0004 g0196 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02895 hp2 a0022 c0068 t0010 g0004 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02922 hp1 a0004 c0099 t0003 g0030 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02922 hp2 a0026 c0044 t0001 g0037 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02965 hp1 a0002 c0021 t0002 g0001 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02965 hp2 a0001 c0011 t0001 g0009 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02970 hp1 a0001 c0080 t0004 g0057 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02970 hp2 a0001 c0037 t0001 g0062 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03017 hp1 a0001 c0089 t0001 g0119 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03017 hp2 a0006 c0026 t0001 g0083 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03041 hp1 a0002 c0021 t0002 g0148 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03041 hp2 a0001 c0087 t0001 g0055 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03098 hp1 a0004 c0100 t0001 g0039 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03098 hp2 a0001 c0001 t0001 g0033 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03130 hp1 a0008 c0018 t0005 g0067 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03130 hp2 a0001 c0001 t0001 g0149 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03195 hp1 a0001 c0037 t0001 g0157 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03195 hp2 a0001 c0003 t0001 g0193 AFR ESN COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03209 hp1 a0005 c0060 t0001 g0063 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03209 hp2 a0001 c0022 t0001 g0021 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03225 hp1 a0004 c0023 t0002 g0138 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03225 hp2 a0001 c0004 t0001 g0064 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03239 hp1 a0002 c0012 t0004 g0058 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03239 hp2 a0006 c0028 t0003 g0230 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03453 hp1 a0008 c0101 t0005 g0027 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03453 hp2 a0001 c0001 t0001 g0025 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03486 hp1 a0002 c0012 t0004 g0049 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03486 hp2 a0030 c0056 t0001 g0044 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03540 hp1 a0001 c0074 t0004 g0200 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03540 hp2 a0001 c0004 t0001 g0213 AFR GWD COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03579 hp1 a0008 c0018 t0005 g0132 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03579 hp2 a0001 c0003 t0001 g0145 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03654 hp1 a0025 c0050 t0002 g0108 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03654 hp2 a0001 c0001 t0001 g0250 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03688 hp1 a0001 c0002 t0002 g0060 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03688 hp2 a0001 c0004 t0001 g0214 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03704 hp1 a0001 c0001 t0001 g0243 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03704 hp2 a0001 c0001 t0004 g0223 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03710 hp1 a0001 c0002 t0001 g0024 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03710 hp2 a0002 c0083 t0001 g0237 SAS PJL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03831 hp1 a0002 c0084 t0002 g0212 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03831 hp2 a0001 c0004 t0001 g0225 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03834 hp1 a0001 c0002 t0002 g0091 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03834 hp2 a0001 c0004 t0001 g0112 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03927 hp1 a0001 c0005 t0002 g0280 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03927 hp2 a0001 c0013 t0002 g0122 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03942 hp1 a0012 c0065 t0002 g0096 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03942 hp2 a0001 c0003 t0001 g0048 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04115 hp1 a0021 c0086 t0002 g0176 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04115 hp2 a0001 c0002 t0001 g0080 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04184 hp1 a0009 c0016 t0002 g0252 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04184 hp2 a0001 c0004 t0001 g0022 SAS BEB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04204 hp1 a0001 c0001 t0004 g0129 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04204 hp2 a0001 c0007 t0002 g0078 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04228 hp1 a0003 c0047 t0001 g0069 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG04228 hp2 a0001 c0001 t0001 g0126 SAS STU COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18522 hp1 a0012 c0088 t0002 g0006 AFR YRI COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18522 hp2 a0001 c0011 t0001 g0016 AFR YRI COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18612 hp1 a0007 c0031 t0002 g0160 EAS CHB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18612 hp2 a0001 c0005 t0002 g0217 EAS CHB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18747 hp1 a0001 c0002 t0017 g0216 EAS CHB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18747 hp2 a0033 c0077 t0003 g0098 EAS CHB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18906 hp1 a0002 c0021 t0002 g0186 AFR YRI COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18906 hp2 a0001 c0022 t0001 g0131 AFR YRI COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18944 hp1 a0003 c0010 t0002 g0151 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18944 hp2 a0001 c0001 t0001 g0135 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18945 hp1 a0001 c0001 t0001 g0277 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18945 hp2 a0001 c0001 t0001 g0125 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18949 hp1 a0001 c0001 t0001 g0228 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18949 hp2 a0001 c0002 t0002 g0269 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18952 hp1 a0001 c0004 t0001 g0071 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18952 hp2 a0001 c0002 t0002 g0283 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18953 hp1 a0010 c0014 t0001 g0279 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18953 hp2 a0001 c0002 t0003 g0143 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18954 hp1 a0001 c0033 t0002 g0100 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18954 hp2 a0001 c0005 t0007 g0262 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18959 hp1 a0001 c0081 t0003 g0154 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18959 hp2 a0001 c0004 t0001 g0174 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18961 hp1 a0001 c0002 t0002 g0104 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18961 hp2 a0001 c0003 t0001 g0101 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18964 hp1 a0007 c0076 t0002 g0281 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18964 hp2 a0003 c0015 t0001 g0189 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18966 hp1 a0001 c0005 t0002 g0158 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18966 hp2 a0010 c0014 t0001 g0265 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18969 hp1 a0003 c0009 t0001 g0171 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18969 hp2 a0001 c0003 t0003 g0264 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18975 hp1 a0003 c0015 t0001 g0168 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18975 hp2 a0001 c0002 t0002 g0092 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18977 hp1 a0005 c0036 t0001 g0292 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18977 hp2 a0001 c0032 t0001 g0147 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18983 hp1 a0003 c0045 t0006 g0242 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18983 hp2 a0001 c0001 t0001 g0258 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18990 hp1 a0001 c0001 t0001 g0253 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18990 hp2 a0001 c0003 t0001 g0249 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18995 hp1 a0001 c0002 t0002 g0111 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18995 hp2 a0001 c0001 t0001 g0103 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18998 hp1 a0001 c0002 t0002 g0188 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18998 hp2 a0035 c0078 t0001 g0115 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18999 hp1 a0003 c0015 t0001 g0202 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA18999 hp2 a0001 c0002 t0002 g0236 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19002 hp1 a0001 c0001 t0001 g0248 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19002 hp2 a0001 c0004 t0001 g0267 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19005 hp1 a0001 c0002 t0002 g0105 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19005 hp2 a0001 c0035 t0001 g0072 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19007 hp1 a0001 c0001 t0001 g0187 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19007 hp2 a0003 c0009 t0001 g0054 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19010 hp1 a0001 c0003 t0001 g0181 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19010 hp2 a0003 c0010 t0006 g0014 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19012 hp1 a0001 c0055 t0003 g0152 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19012 hp2 a0001 c0002 t0006 g0233 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19043 hp1 a0002 c0020 t0003 g0156 AFR LWK COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19043 hp2 a0001 c0001 t0001 g0127 AFR LWK COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19057 hp1 a0005 c0058 t0001 g0165 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19057 hp2 a0001 c0035 t0001 g0073 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19060 hp1 a0001 c0004 t0001 g0032 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19060 hp2 a0007 c0034 t0001 g0282 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19064 hp1 a0001 c0001 t0002 g0278 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19064 hp2 a0001 c0003 t0001 g0153 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19065 hp1 a0001 c0061 t0001 g0257 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19065 hp2 a0001 c0001 t0001 g0175 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19070 hp1 a0001 c0032 t0001 g0162 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19070 hp2 a0001 c0001 t0001 g0093 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19074 hp1 a0010 c0014 t0001 g0275 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19074 hp2 a0001 c0033 t0002 g0169 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19088 hp1 a0001 c0001 t0001 g0124 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19088 hp2 a0003 c0009 t0001 g0247 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19091 hp1 a0017 c0043 t0002 g0015 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19091 hp2 a0001 c0005 t0006 g0173 EAS JPT COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19240 hp1 a0001 c0004 t0001 g0018 AFR YRI COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA19240 hp2 a0024 c0066 t0010 g0066 AFR YRI COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA20129 hp1 a0001 c0019 t0003 g0170 AFR ASW COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA20129 hp2 a0001 c0004 t0001 g0090 AFR ASW COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA20905 hp1 a0001 c0002 t0002 g0235 SAS GIH COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA20905 hp2 a0003 c0009 t0001 g0167 SAS GIH COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01123 hp1 a0009 c0016 t0001 g0209 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG01123 hp2 a0001 c0003 t0001 g0081 AMR CLM COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02109 hp1 a0001 c0073 t0003 g0034 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02109 hp2 a0001 c0069 t0005 g0038 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02486 hp1 a0001 c0004 t0016 g0051 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02486 hp2 a0001 c0001 t0001 g0031 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02559 hp1 a0014 c0039 t0009 g0197 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG02559 hp2 a0001 c0001 t0001 g0192 AFR ACB COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03471 hp1 a0001 c0079 t0001 g0042 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG03471 hp2 a0001 c0022 t0001 g0008 AFR MSL COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG06807 hp1 a0001 c0063 t0001 g0144 AFR USA COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
HG06807 hp2 a0004 c0057 t0002 g0035 AFR USA COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA20300 hp1 a0001 c0006 t0003 g0291 AFR USA COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA20300 hp2 a0001 c0001 t0001 g0052 AFR USA COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA21309 hp1 a0018 c0095 t0001 g0146 AFR LWK COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
NA21309 hp2 a0028 c0097 t0001 g0036 AFR LWK COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
homoSapiens_chm13v2 hp1 a0006 c0026 t0003 g0219 REF REF COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720
homoSapiens_grch38 hp1 a0005 c0059 t0002 g0288 REF REF COL18A1_chr21_45400165_45518720 COL18A1 chr21 45400165 45518720

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
chr21:45468325 G
G
 A
A
 1 a0016
a0016
 1 HG01361.hp2
HG01361.hp2
 missense_variant MODERATE c.190G>A
c.190G>A
 p.Val64Ile
p.Val64Ile
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 256/5408 190/4020 64/1339 chr21 45468325
chr21:45468376 C
C
 T
T
 1 a0011
a0011
 3 HG02258.hp2
HG02572.hp2
HG02717.hp2
HG02258.hp2
HG02572.hp2
HG02717.hp2
 missense_variant MODERATE c.241C>T
c.241C>T
 p.Arg81Trp
p.Arg81Trp
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 307/5408 241/4020 81/1339 chr21 45468376
chr21:45468631 G
G
 A
A
 1 a0016
a0016
 1 HG01361.hp2
HG01361.hp2
 missense_variant MODERATE c.496G>A
c.496G>A
 p.Ala166Thr
p.Ala166Thr
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 562/5408 496/4020 166/1339 chr21 45468631
chr21:45468713 G
G
 A
A
 1 a0017
a0017
 1 NA19091.hp1
NA19091.hp1
 missense_variant MODERATE c.578G>A
c.578G>A
 p.Arg193Gln
p.Arg193Gln
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 644/5408 578/4020 193/1339 chr21 45468713
chr21:45468739 G
G
 A
A
 1 a0010
a0010
 3 NA18953.hp1
NA18966.hp2
NA19074.hp1
NA18953.hp1
NA18966.hp2
NA19074.hp1
 missense_variant MODERATE c.604G>A
c.604G>A
 p.Gly202Arg
p.Gly202Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 670/5408 604/4020 202/1339 chr21 45468739
chr21:45475513 G
G
 T
T
 4 a0011
a0018
a0019
others(1): Show 
a0011
a0018
a0019
a0020
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 missense_variant MODERATE c.776G>T
c.776G>T
 p.Arg259Leu
p.Arg259Leu
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/42 842/5408 776/4020 259/1339 chr21 45475513
chr21:45477753 G
G
 A
A
 1 a0011
a0011
 3 HG02258.hp2
HG02572.hp2
HG02717.hp2
HG02258.hp2
HG02572.hp2
HG02717.hp2
 missense_variant MODERATE c.1009G>A
c.1009G>A
 p.Gly337Ser
p.Gly337Ser
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/42 1075/5408 1009/4020 337/1339 chr21 45477753
chr21:45480787 G
G
 A
A
 2 a0036
a0037
a0036
a0037
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 missense_variant MODERATE c.1540G>A
c.1540G>A
 p.Asp514Asn
p.Asp514Asn
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/42 1606/5408 1540/4020 514/1339 chr21 45480787
chr21:45490296 G
G
 A
A
 8 a0002
a0009
a0012
others(5): Show 
a0002
a0009
a0012
a0021
a0022
a0023
a0024
a0025
 24 HG00639.hp2
HG01070.hp2
HG01074.hp2
others(21): Show 
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 missense_variant MODERATE c.1981G>A
c.1981G>A
 p.Val661Ile
p.Val661Ile
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/42 2047/5408 1981/4020 661/1339 chr21 45490296
chr21:45491274 C
C
 G
G
 7 a0007
a0009
a0012
others(4): Show 
a0007
a0009
a0012
a0025
a0033
a0034
a0035
 14 HG00408.hp2
HG00597.hp1
HG01070.hp2
others(11): Show 
HG00408.hp2
HG00597.hp1
HG01070.hp2
HG01123.hp1
HG02132.hp1
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
 missense_variant MODERATE c.2117C>G
c.2117C>G
 p.Pro706Arg
p.Pro706Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/42 2183/5408 2117/4020 706/1339 chr21 45491274
chr21:45492550 G
G
 A
A
 2 a0013
a0014
a0013
a0014
 4 HG02257.hp2
HG02559.hp1
HG02630.hp1
others(1): Show 
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02895.hp1
 missense_variant MODERATE c.2173G>A
c.2173G>A
 p.Val725Met
p.Val725Met
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 23/42 2239/5408 2173/4020 725/1339 chr21 45492550
chr21:45493559 CCCAGAAA
others(49): Show 
CCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGT
GGGGGCT
 C
C
 1 a0021
a0021
 1 HG04115.hp1
HG04115.hp1
 frameshift_variant&splice_donor_variant&splice_region_variant&intron_variant HIGH c.2339_2352+42delAGA
others(53): Show 
c.2339_2352+42delAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTC
CTTCCGGCAGGCGTGGGGGCTCC
 p.Gln780fs
p.Gln780fs
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/42 2405/5408 2339/4020 780/1339 INFO_REALIGN_3_PRIME chr21 45493559
chr21:45493563 G
G
 C
C
 6 a0003
a0011
a0018
others(3): Show 
a0003
a0011
a0018
a0019
a0020
a0026
 21 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 missense_variant MODERATE c.2340G>C
c.2340G>C
 p.Gln780His
p.Gln780His
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/42 2406/5408 2340/4020 780/1339 chr21 45493563
chr21:45497073 CGGGCCTC
others(32): Show 
CGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACA
 C
C
 1 a0027
a0027
 1 HG02257.hp1
HG02257.hp1
 splice_donor_variant&conservative_inframe_deletion&splice_region_variant&intron_variant HIGH c.2603_2620+21delGGC
others(36): Show 
c.2603_2620+21delGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGC
TCACAG
 p.Pro869_Gly874del
p.Pro869_Gly874del
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 31/42 2669/5408 2603/4020 868/1339 INFO_REALIGN_3_PRIME chr21 45497073
chr21:45504467 C
C
 G
G
 1 a0028
a0028
 1 NA21309.hp2
NA21309.hp2
 missense_variant MODERATE c.2779C>G
c.2779C>G
 p.Pro927Ala
p.Pro927Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2845/5408 2779/4020 927/1339 chr21 45504467
chr21:45504470 G
G
 A
A
 1 a0008
a0008
 4 HG02630.hp2
HG03130.hp1
HG03453.hp1
others(1): Show 
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 missense_variant MODERATE c.2782G>A
c.2782G>A
 p.Gly928Arg
p.Gly928Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2848/5408 2782/4020 928/1339 chr21 45504470
chr21:45504470 G
G
 C
C
 1 a0014
a0014
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 missense_variant MODERATE c.2782G>C
c.2782G>C
 p.Gly928Arg
p.Gly928Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2848/5408 2782/4020 928/1339 chr21 45504470
chr21:45504502 CGGCCCCC
others(11): Show 
CGGCCCCCCCGGCCCCCCA
 C
C
 2 a0026
a0027
a0026
a0027
 2 HG02257.hp1
HG02922.hp2
HG02257.hp1
HG02922.hp2
 disruptive_inframe_deletion MODERATE c.2823_2840delCGGCCC
others(12): Show 
c.2823_2840delCGGCCCCCCAGGCCCCCC
 p.Gly942_Pro947del
p.Gly942_Pro947del
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2889/5408 2823/4020 941/1339 INFO_REALIGN_3_PRIME chr21 45504502
chr21:45504511 CGGCCCCC
others(2): Show 
CGGCCCCCCA
 C
C
 31 a0001
a0002
a0003
others(28): Show 
a0001
a0002
a0003
a0004
a0006
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
a0019
a0021
a0022
a0023
a0024
a0028
a0029
a0030
a0031
a0033
a0034
a0035
a0036
a0037
 282 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(279): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
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
HG02572.hp1
HG02572.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.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 disruptive_inframe_deletion MODERATE c.2838_2846delCCCAGG
others(3): Show 
c.2838_2846delCCCAGGCCC
 p.Pro947_Pro949del
p.Pro947_Pro949del
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2904/5408 2838/4020 946/1339 INFO_REALIGN_3_PRIME chr21 45504511
chr21:45504511 CGGCCCCC
others(11): Show 
CGGCCCCCCAGGCCCCCCA
 C
C
 2 a0020
a0032
a0020
a0032
 2 HG00140.hp2
HG02717.hp1
HG00140.hp2
HG02717.hp1
 disruptive_inframe_deletion MODERATE c.2829_2846delCCCAGG
others(12): Show 
c.2829_2846delCCCAGGCCCCCCAGGCCC
 p.Pro944_Pro949del
p.Pro944_Pro949del
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2895/5408 2829/4020 943/1339 INFO_REALIGN_3_PRIME chr21 45504511
chr21:45505155 C
C
 T
T
 1 a0031
a0031
 1 HG01496.hp1
HG01496.hp1
 missense_variant MODERATE c.2890C>T
c.2890C>T
 p.Arg964Trp
p.Arg964Trp
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/42 2956/5408 2890/4020 964/1339 chr21 45505155
chr21:45505235 A
A
 AGGCCCCC
others(2): Show 
AGGCCCCCCC
 7 a0004
a0012
a0014
others(4): Show 
a0004
a0012
a0014
a0018
a0022
a0023
a0036
 14 HG00639.hp2
HG01891.hp2
HG02451.hp1
others(11): Show 
HG00639.hp2
HG01891.hp2
HG02451.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp1
HG02895.hp2
HG02922.hp1
HG03098.hp1
HG03225.hp1
HG03942.hp1
HG06807.hp2
NA18522.hp1
NA21309.hp1
 disruptive_inframe_insertion MODERATE c.2978_2979insCGGCCC
others(3): Show 
c.2978_2979insCGGCCCCCC
 p.Pro993_Gly994insGl
others(7): Show 
p.Pro993_Gly994insGlyProPro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/42 3045/5408 2979/4020 993/1339 INFO_REALIGN_3_PRIME chr21 45505235
chr21:45505421 C
C
 T
T
 1 a0035
a0035
 1 NA18998.hp2
NA18998.hp2
 missense_variant MODERATE c.3077C>T
c.3077C>T
 p.Ala1026Val
p.Ala1026Val
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/42 3143/5408 3077/4020 1026/1339 chr21 45505421
chr21:45509417 C
C
 G
G
 1 a0015
a0015
 2 HG01515.hp1
HG01517.hp1
HG01515.hp1
HG01517.hp1
 missense_variant MODERATE c.3311C>G
c.3311C>G
 p.Pro1104Arg
p.Pro1104Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3377/5408 3311/4020 1104/1339 chr21 45509417
chr21:45509512 G
G
 A
A
 1 a0014
a0014
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 missense_variant MODERATE c.3406G>A
c.3406G>A
 p.Gly1136Arg
p.Gly1136Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3472/5408 3406/4020 1136/1339 chr21 45509512
chr21:45509591 T
T
 G
G
 1 a0034
a0034
 1 HG02132.hp1
HG02132.hp1
 missense_variant MODERATE c.3485T>G
c.3485T>G
 p.Phe1162Cys
p.Phe1162Cys
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3551/5408 3485/4020 1162/1339 chr21 45509591
chr21:45509592 C
C
 G
G
 1 a0034
a0034
 1 HG02132.hp1
HG02132.hp1
 missense_variant MODERATE c.3486C>G
c.3486C>G
 p.Phe1162Leu
p.Phe1162Leu
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3552/5408 3486/4020 1162/1339 chr21 45509592
chr21:45509600 T
T
 C
C
 1 a0034
a0034
 1 HG02132.hp1
HG02132.hp1
 missense_variant&splice_region_variant MODERATE c.3494T>C
c.3494T>C
 p.Val1165Ala
p.Val1165Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3560/5408 3494/4020 1165/1339 chr21 45509600
chr21:45510233 G
G
 A
A
 1 a0029
a0029
 1 HG01192.hp2
HG01192.hp2
 missense_variant MODERATE c.3665G>A
c.3665G>A
 p.Arg1222His
p.Arg1222His
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/42 3731/5408 3665/4020 1222/1339 chr21 45510233
chr21:45510241 G
G
 A
A
 2 a0022
a0024
a0022
a0024
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 missense_variant MODERATE c.3673G>A
c.3673G>A
 p.Val1225Met
p.Val1225Met
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/42 3739/5408 3673/4020 1225/1339 chr21 45510241
chr21:45511180 C
C
 T
T
 1 a0030
a0030
 1 HG03486.hp2
HG03486.hp2
 missense_variant MODERATE c.3763C>T
c.3763C>T
 p.Arg1255Cys
p.Arg1255Cys
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/42 3829/5408 3763/4020 1255/1339 chr21 45511180
chr21:45511195 G
G
 A
A
 3 a0006
a0015
a0033
a0006
a0015
a0033
 8 HG00642.hp1
HG01515.hp1
HG01517.hp1
others(5): Show 
HG00642.hp1
HG01515.hp1
HG01517.hp1
HG02647.hp2
HG03017.hp2
HG03239.hp2
NA18747.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.3778G>A
c.3778G>A
 p.Asp1260Asn
p.Asp1260Asn
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/42 3844/5408 3778/4020 1260/1339 chr21 45511195
chr21:45512201 G
G
 T
T
 1 a0019
a0019
 1 HG02280.hp1
HG02280.hp1
 missense_variant MODERATE c.3823G>T
c.3823G>T
 p.Val1275Leu
p.Val1275Leu
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 3889/5408 3823/4020 1275/1339 chr21 45512201
chr21:45512343 A
A
 G
G
 1 a0020
a0020
 1 HG02717.hp1
HG02717.hp1
 missense_variant MODERATE c.3965A>G
c.3965A>G
 p.His1322Arg
p.His1322Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 4031/5408 3965/4020 1322/1339 chr21 45512343

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
chr21:45468261 G
G
 A
A
 2 a0001c0041
a0004c0023
a0001c0041
a0004c0023
 3 HG01891.hp2
HG02145.hp1
HG03225.hp1
HG01891.hp2
HG02145.hp1
HG03225.hp1
 synonymous_variant LOW c.126G>A
c.126G>A
 p.Val42Val
p.Val42Val
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 192/5408 126/4020 42/1339 chr21 45468261
chr21:45468450 A
A
 C
C
 1 a0002c0103
a0002c0103
 1 HG01167.hp1
HG01167.hp1
 synonymous_variant LOW c.315A>C
c.315A>C
 p.Pro105Pro
p.Pro105Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 381/5408 315/4020 105/1339 chr21 45468450
chr21:45468555 A
A
 G
G
 8 a0001c0022
a0001c0038
a0001c0098
others(5): Show 
a0001c0022
a0001c0038
a0001c0098
a0004c0099
a0004c0100
a0008c0101
a0013c0102
a0014c0039
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 synonymous_variant LOW c.420A>G
c.420A>G
 p.Thr140Thr
p.Thr140Thr
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 486/5408 420/4020 140/1339 chr21 45468555
chr21:45468645 A
A
 G
G
 8 a0001c0022
a0001c0038
a0001c0098
others(5): Show 
a0001c0022
a0001c0038
a0001c0098
a0004c0099
a0004c0100
a0008c0101
a0013c0102
a0014c0039
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 synonymous_variant LOW c.510A>G
c.510A>G
 p.Ala170Ala
p.Ala170Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 576/5408 510/4020 170/1339 chr21 45468645
chr21:45468738 C
C
 T
T
 8 a0001c0022
a0001c0038
a0001c0098
others(5): Show 
a0001c0022
a0001c0038
a0001c0098
a0004c0099
a0004c0100
a0008c0101
a0013c0102
a0014c0039
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 synonymous_variant LOW c.603C>T
c.603C>T
 p.Ala201Ala
p.Ala201Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 669/5408 603/4020 201/1339 chr21 45468738
chr21:45468747 C
C
 T
T
 2 a0013c0102
a0014c0039
a0013c0102
a0014c0039
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 synonymous_variant LOW c.612C>T
c.612C>T
 p.Phe204Phe
p.Phe204Phe
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 678/5408 612/4020 204/1339 chr21 45468747
chr21:45468759 G
G
 A
A
 8 a0001c0022
a0001c0038
a0001c0098
others(5): Show 
a0001c0022
a0001c0038
a0001c0098
a0004c0099
a0004c0100
a0008c0101
a0013c0102
a0014c0039
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 synonymous_variant LOW c.624G>A
c.624G>A
 p.Ala208Ala
p.Ala208Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/42 690/5408 624/4020 208/1339 chr21 45468759
chr21:45473903 C
C
 T
T
 1 a0028c0097
a0028c0097
 1 NA21309.hp2
NA21309.hp2
 synonymous_variant LOW c.660C>T
c.660C>T
 p.Ile220Ile
p.Ile220Ile
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/42 726/5408 660/4020 220/1339 chr21 45473903
chr21:45473910 C
C
 T
T
 1 a0001c0037
a0001c0037
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 synonymous_variant LOW c.667C>T
c.667C>T
 p.Leu223Leu
p.Leu223Leu
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/42 733/5408 667/4020 223/1339 chr21 45473910
chr21:45476380 G
G
 A
A
 19 a0001c0022
a0001c0038
a0001c0098
others(16): Show 
a0001c0022
a0001c0038
a0001c0098
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0004c0099
a0004c0100
a0008c0101
a0011c0040
a0011c0104
a0013c0102
a0014c0039
a0018c0095
a0019c0096
a0020c0094
a0026c0044
 32 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(29): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 synonymous_variant LOW c.828G>A
c.828G>A
 p.Ala276Ala
p.Ala276Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/42 894/5408 828/4020 276/1339 chr21 45476380
chr21:45476389 C
C
 G
G
 36 a0001c0004
a0001c0005
a0001c0022
others(33): Show 
a0001c0004
a0001c0005
a0001c0022
a0001c0035
a0001c0038
a0001c0041
a0001c0087
a0001c0089
a0001c0090
a0001c0093
a0001c0098
a0002c0020
a0002c0021
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0004c0023
a0004c0091
a0004c0099
a0004c0100
a0005c0036
a0008c0101
a0010c0014
a0011c0040
a0011c0104
a0012c0088
a0013c0102
a0014c0039
a0018c0095
a0019c0096
a0020c0094
a0026c0044
a0028c0097
a0031c0092
 89 HG00423.hp1
HG00438.hp2
HG00544.hp1
others(86): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.837C>G
c.837C>G
 p.Pro279Pro
p.Pro279Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/42 903/5408 837/4020 279/1339 chr21 45476389
chr21:45476398 G
G
 T
T
 29 a0001c0004
a0001c0005
a0001c0022
others(26): Show 
a0001c0004
a0001c0005
a0001c0022
a0001c0035
a0001c0038
a0001c0041
a0001c0089
a0001c0090
a0001c0093
a0002c0020
a0002c0021
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0004c0023
a0004c0091
a0004c0099
a0004c0100
a0005c0036
a0008c0101
a0010c0014
a0012c0088
a0013c0102
a0014c0039
a0026c0044
a0028c0097
a0031c0092
 81 HG00423.hp1
HG00438.hp2
HG00544.hp1
others(78): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.846G>T
c.846G>T
 p.Thr282Thr
p.Thr282Thr
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/42 912/5408 846/4020 282/1339 chr21 45476398
chr21:45476467 G
G
 T
T
 4 a0002c0083
a0002c0084
a0021c0086
others(1): Show 
a0002c0083
a0002c0084
a0021c0086
a0023c0085
 4 HG00639.hp2
HG03710.hp2
HG03831.hp1
others(1): Show 
HG00639.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp1
 synonymous_variant LOW c.915G>T
c.915G>T
 p.Val305Val
p.Val305Val
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/42 981/5408 915/4020 305/1339 chr21 45476467
chr21:45477887 G
G
 A
A
 4 a0001c0024
a0003c0009
a0003c0010
others(1): Show 
a0001c0024
a0003c0009
a0003c0010
a0003c0047
 11 HG00544.hp1
HG00558.hp1
HG02083.hp1
others(8): Show 
HG00544.hp1
HG00558.hp1
HG02083.hp1
HG02683.hp1
HG04228.hp1
NA18944.hp1
NA18969.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 synonymous_variant LOW c.1143G>A
c.1143G>A
 p.Ala381Ala
p.Ala381Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/42 1209/5408 1143/4020 381/1339 chr21 45477887
chr21:45477902 C
C
 G
G
 1 a0001c0082
a0001c0082
 1 HG02818.hp1
HG02818.hp1
 synonymous_variant LOW c.1158C>G
c.1158C>G
 p.Pro386Pro
p.Pro386Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/42 1224/5408 1158/4020 386/1339 chr21 45477902
chr21:45477938 C
C
 T
T
 1 a0001c0081
a0001c0081
 1 NA18959.hp1
NA18959.hp1
 synonymous_variant LOW c.1194C>T
c.1194C>T
 p.Asp398Asp
p.Asp398Asp
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/42 1260/5408 1194/4020 398/1339 chr21 45477938
chr21:45478329 C
C
 G
G
 14 a0001c0013
a0001c0019
a0001c0073
others(11): Show 
a0001c0013
a0001c0019
a0001c0073
a0001c0074
a0001c0079
a0001c0080
a0002c0103
a0006c0072
a0007c0034
a0007c0076
a0029c0071
a0033c0077
a0034c0075
a0035c0078
 20 HG00099.hp1
HG00597.hp1
HG00642.hp1
others(17): Show 
HG00099.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG01167.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02970.hp1
HG03471.hp1
HG03540.hp1
HG03927.hp2
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
NA20129.hp1
 splice_region_variant&synonymous_variant LOW c.1224C>G
c.1224C>G
 p.Gly408Gly
p.Gly408Gly
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/42 1290/5408 1224/4020 408/1339 chr21 45478329
chr21:45479928 C
C
 T
T
 29 a0001c0022
a0001c0037
a0001c0069
others(26): Show 
a0001c0022
a0001c0037
a0001c0069
a0001c0098
a0002c0012
a0002c0067
a0002c0083
a0002c0084
a0002c0103
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0003c0047
a0008c0018
a0008c0101
a0011c0040
a0011c0104
a0012c0065
a0018c0095
a0019c0096
a0020c0094
a0021c0086
a0022c0068
a0023c0085
a0024c0066
a0026c0044
a0027c0070
 46 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(43): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 synonymous_variant LOW c.1275C>T
c.1275C>T
 p.Pro425Pro
p.Pro425Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 10/42 1341/5408 1275/4020 425/1339 chr21 45479928
chr21:45479943 C
C
 T
T
 29 a0001c0022
a0001c0038
a0001c0069
others(26): Show 
a0001c0022
a0001c0038
a0001c0069
a0001c0098
a0002c0012
a0002c0067
a0002c0083
a0002c0084
a0002c0103
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0003c0047
a0008c0018
a0008c0101
a0011c0040
a0011c0104
a0012c0065
a0018c0095
a0019c0096
a0020c0094
a0021c0086
a0022c0068
a0023c0085
a0024c0066
a0026c0044
a0027c0070
 46 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(43): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 synonymous_variant LOW c.1290C>T
c.1290C>T
 p.Asp430Asp
p.Asp430Asp
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 10/42 1356/5408 1290/4020 430/1339 chr21 45479943
chr21:45479958 C
C
 A
A
 26 a0001c0022
a0001c0038
a0001c0098
others(23): Show 
a0001c0022
a0001c0038
a0001c0098
a0002c0012
a0002c0067
a0002c0083
a0002c0084
a0002c0103
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0003c0047
a0008c0101
a0011c0040
a0011c0104
a0012c0065
a0018c0095
a0019c0096
a0020c0094
a0021c0086
a0022c0068
a0023c0085
a0024c0066
a0026c0044
 41 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(38): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 synonymous_variant LOW c.1305C>A
c.1305C>A
 p.Gly435Gly
p.Gly435Gly
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 10/42 1371/5408 1305/4020 435/1339 chr21 45479958
chr21:45480496 C
C
 T
T
 29 a0001c0022
a0001c0038
a0001c0069
others(26): Show 
a0001c0022
a0001c0038
a0001c0069
a0001c0098
a0002c0012
a0002c0067
a0002c0083
a0002c0084
a0002c0103
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0003c0047
a0008c0018
a0008c0101
a0011c0040
a0011c0104
a0012c0065
a0018c0095
a0019c0096
a0020c0094
a0021c0086
a0022c0068
a0023c0085
a0024c0066
a0026c0044
a0027c0070
 46 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(43): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 synonymous_variant LOW c.1428C>T
c.1428C>T
 p.Phe476Phe
p.Phe476Phe
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 12/42 1494/5408 1428/4020 476/1339 chr21 45480496
chr21:45480756 C
C
 T
T
 3 a0001c0019
a0001c0079
a0001c0080
a0001c0019
a0001c0079
a0001c0080
 5 HG01891.hp1
HG02723.hp1
HG02970.hp1
others(2): Show 
HG01891.hp1
HG02723.hp1
HG02970.hp1
HG03471.hp1
NA20129.hp1
 synonymous_variant LOW c.1509C>T
c.1509C>T
 p.Gly503Gly
p.Gly503Gly
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/42 1575/5408 1509/4020 503/1339 chr21 45480756
chr21:45482803 A
A
 G
G
 2 a0001c0032
a0001c0033
a0001c0032
a0001c0033
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 synonymous_variant LOW c.1683A>G
c.1683A>G
 p.Ala561Ala
p.Ala561Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/42 1749/5408 1683/4020 561/1339 chr21 45482803
chr21:45488441 T
T
 C
C
 39 a0001c0003
a0001c0007
a0001c0011
others(36): Show 
a0001c0003
a0001c0007
a0001c0011
a0001c0022
a0001c0025
a0001c0032
a0001c0033
a0001c0037
a0001c0038
a0001c0053
a0001c0069
a0001c0082
a0001c0089
a0001c0098
a0003c0009
a0003c0010
a0003c0015
a0003c0045
a0003c0046
a0003c0047
a0006c0026
a0008c0018
a0009c0016
a0011c0040
a0011c0104
a0012c0065
a0012c0088
a0013c0051
a0013c0102
a0014c0039
a0016c0042
a0018c0095
a0019c0096
a0020c0094
a0025c0050
a0026c0044
a0032c0052
a0036c0048
a0037c0049
 89 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(86): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1920T>C
c.1920T>C
 p.Leu640Leu
p.Leu640Leu
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/42 1986/5408 1920/4020 640/1339 chr21 45488441
chr21:45489512 G
G
 A
A
 4 a0009c0016
a0012c0065
a0012c0088
others(1): Show 
a0009c0016
a0012c0065
a0012c0088
a0025c0050
 6 HG01070.hp2
HG01123.hp1
HG03654.hp1
others(3): Show 
HG01070.hp2
HG01123.hp1
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
 synonymous_variant LOW c.1950G>A
c.1950G>A
 p.Pro650Pro
p.Pro650Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/42 2016/5408 1950/4020 650/1339 chr21 45489512
chr21:45490313 C
C
 T
T
 1 a0019c0096
a0019c0096
 1 HG02280.hp1
HG02280.hp1
 synonymous_variant LOW c.1998C>T
c.1998C>T
 p.Gly666Gly
p.Gly666Gly
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/42 2064/5408 1998/4020 666/1339 chr21 45490313
chr21:45492695 G
G
 A
A
 2 a0001c0027
a0001c0054
a0001c0027
a0001c0054
 3 HG01243.hp1
HG02258.hp1
HG02723.hp2
HG01243.hp1
HG02258.hp1
HG02723.hp2
 synonymous_variant LOW c.2196G>A
c.2196G>A
 p.Pro732Pro
p.Pro732Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/42 2262/5408 2196/4020 732/1339 chr21 45492695
chr21:45496559 C
C
 T
T
 1 a0001c0064
a0001c0064
 1 HG02135.hp2
HG02135.hp2
 synonymous_variant LOW c.2568C>T
c.2568C>T
 p.Tyr856Tyr
p.Tyr856Tyr
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/42 2634/5408 2568/4020 856/1339 chr21 45496559
chr21:45497651 C
C
 T
T
 1 a0001c0063
a0001c0063
 1 HG06807.hp1
HG06807.hp1
 synonymous_variant LOW c.2673C>T
c.2673C>T
 p.Pro891Pro
p.Pro891Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/42 2739/5408 2673/4020 891/1339 chr21 45497651
chr21:45504021 G
G
 A
A
 1 a0001c0025
a0001c0025
 2 HG00438.hp1
HG00597.hp2
HG00438.hp1
HG00597.hp2
 synonymous_variant LOW c.2694G>A
c.2694G>A
 p.Pro898Pro
p.Pro898Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/42 2760/5408 2694/4020 898/1339 chr21 45504021
chr21:45504469 C
C
 T
T
 4 a0001c0030
a0001c0061
a0001c0062
others(1): Show 
a0001c0030
a0001c0061
a0001c0062
a0001c0093
 5 HG00621.hp2
HG01257.hp2
HG01258.hp1
others(2): Show 
HG00621.hp2
HG01257.hp2
HG01258.hp1
HG02698.hp1
NA19065.hp1
 synonymous_variant LOW c.2781C>T
c.2781C>T
 p.Pro927Pro
p.Pro927Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2847/5408 2781/4020 927/1339 chr21 45504469
chr21:45504475 C
C
 T
T
 2 a0001c0030
a0013c0051
a0001c0030
a0013c0051
 3 HG01257.hp2
HG01258.hp1
HG02257.hp2
HG01257.hp2
HG01258.hp1
HG02257.hp2
 synonymous_variant LOW c.2787C>T
c.2787C>T
 p.Gly929Gly
p.Gly929Gly
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2853/5408 2787/4020 929/1339 chr21 45504475
chr21:45504520 A
A
 C
C
 3 a0005c0036
a0005c0060
a0025c0050
a0005c0036
a0005c0060
a0025c0050
 4 HG02083.hp2
HG03209.hp1
HG03654.hp1
others(1): Show 
HG02083.hp2
HG03209.hp1
HG03654.hp1
NA18977.hp1
 synonymous_variant LOW c.2832A>C
c.2832A>C
 p.Pro944Pro
p.Pro944Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/42 2898/5408 2832/4020 944/1339 chr21 45504520
chr21:45505226 C
C
 T
T
 1 a0004c0100
a0004c0100
 1 HG03098.hp1
HG03098.hp1
 synonymous_variant LOW c.2961C>T
c.2961C>T
 p.Pro987Pro
p.Pro987Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/42 3027/5408 2961/4020 987/1339 chr21 45505226
chr21:45505235 A
A
 C
C
 2 a0001c0074
a0037c0049
a0001c0074
a0037c0049
 2 HG02886.hp1
HG03540.hp1
HG02886.hp1
HG03540.hp1
 synonymous_variant LOW c.2970A>C
c.2970A>C
 p.Pro990Pro
p.Pro990Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/42 3036/5408 2970/4020 990/1339 chr21 45505235
chr21:45505244 A
A
 C
C
 1 a0031c0092
a0031c0092
 1 HG01496.hp1
HG01496.hp1
 synonymous_variant LOW c.2979A>C
c.2979A>C
 p.Pro993Pro
p.Pro993Pro
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/42 3045/5408 2979/4020 993/1339 chr21 45505244
chr21:45505247 G
G
 C
C
 3 a0001c0035
a0001c0053
a0031c0092
a0001c0035
a0001c0053
a0031c0092
 4 HG00609.hp2
HG01496.hp1
NA19005.hp2
others(1): Show 
HG00609.hp2
HG01496.hp1
NA19005.hp2
NA19057.hp2
 synonymous_variant LOW c.2982G>C
c.2982G>C
 p.Gly994Gly
p.Gly994Gly
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/42 3048/5408 2982/4020 994/1339 chr21 45505247
chr21:45507575 A
A
 G
G
 13 a0001c0006
a0001c0011
a0001c0017
others(10): Show 
a0001c0006
a0001c0011
a0001c0017
a0001c0019
a0001c0073
a0003c0046
a0004c0099
a0006c0026
a0006c0028
a0006c0072
a0015c0029
a0026c0044
a0033c0077
 29 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03239.hp2
NA18522.hp2
NA18747.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.3231A>G
c.3231A>G
 p.Thr1077Thr
p.Thr1077Thr
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/42 3297/5408 3231/4020 1077/1339 chr21 45507575
chr21:45509367 G
G
 A
A
 1 a0001c0055
a0001c0055
 1 NA19012.hp1
NA19012.hp1
 synonymous_variant LOW c.3261G>A
c.3261G>A
 p.Val1087Val
p.Val1087Val
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3327/5408 3261/4020 1087/1339 chr21 45509367
chr21:45509553 G
G
 A
A
 50 a0001c0001
a0001c0003
a0001c0004
others(47): Show 
a0001c0001
a0001c0003
a0001c0004
a0001c0006
a0001c0022
a0001c0024
a0001c0027
a0001c0032
a0001c0035
a0001c0037
a0001c0041
a0001c0053
a0001c0061
a0001c0063
a0001c0064
a0001c0079
a0001c0080
a0001c0081
a0001c0082
a0001c0087
a0001c0089
a0001c0093
a0001c0098
a0002c0020
a0002c0067
a0002c0083
a0003c0009
a0003c0015
a0003c0047
a0004c0091
a0004c0100
a0005c0036
a0005c0058
a0005c0060
a0007c0034
a0009c0016
a0010c0014
a0011c0040
a0013c0051
a0013c0102
a0016c0042
a0018c0095
a0021c0086
a0022c0068
a0024c0066
a0027c0070
a0028c0097
a0030c0056
a0034c0075
a0035c0078
 156 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(153): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.3447G>A
c.3447G>A
 p.Ala1149Ala
p.Ala1149Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3513/5408 3447/4020 1149/1339 chr21 45509553
chr21:45509595 G
G
 A
A
 1 a0034c0075
a0034c0075
 1 HG02132.hp1
HG02132.hp1
 synonymous_variant LOW c.3489G>A
c.3489G>A
 p.Gln1163Gln
p.Gln1163Gln
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3555/5408 3489/4020 1163/1339 chr21 45509595
chr21:45509601 G
G
 T
T
 1 a0034c0075
a0034c0075
 1 HG02132.hp1
HG02132.hp1
 splice_region_variant&synonymous_variant LOW c.3495G>T
c.3495G>T
 p.Val1165Val
p.Val1165Val
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/42 3561/5408 3495/4020 1165/1339 chr21 45509601
chr21:45510096 A
A
 G
G
 6 a0001c0038
a0001c0080
a0002c0012
others(3): Show 
a0001c0038
a0001c0080
a0002c0012
a0013c0102
a0036c0048
a0037c0049
 10 HG02572.hp1
HG02622.hp1
HG02622.hp2
others(7): Show 
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02970.hp1
HG03239.hp1
HG03486.hp1
 synonymous_variant LOW c.3528A>G
c.3528A>G
 p.Ser1176Ser
p.Ser1176Ser
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/42 3594/5408 3528/4020 1176/1339 chr21 45510096
chr21:45510177 C
C
 T
T
 3 a0001c0069
a0008c0018
a0008c0101
a0001c0069
a0008c0018
a0008c0101
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 synonymous_variant LOW c.3609C>T
c.3609C>T
 p.Arg1203Arg
p.Arg1203Arg
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/42 3675/5408 3609/4020 1203/1339 chr21 45510177
chr21:45510240 C
C
 T
T
 1 a0001c0090
a0001c0090
 1 HG02698.hp2
HG02698.hp2
 synonymous_variant LOW c.3672C>T
c.3672C>T
 p.Ala1224Ala
p.Ala1224Ala
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/42 3738/5408 3672/4020 1224/1339 chr21 45510240
chr21:45510249 C
C
 T
T
 2 a0001c0008
a0032c0052
a0001c0008
a0032c0052
 6 HG00140.hp2
HG00639.hp1
HG01496.hp2
others(3): Show 
HG00140.hp2
HG00639.hp1
HG01496.hp2
HG01978.hp1
HG02004.hp1
HG02273.hp1
 synonymous_variant LOW c.3681C>T
c.3681C>T
 p.Ile1227Ile
p.Ile1227Ile
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/42 3747/5408 3681/4020 1227/1339 chr21 45510249
chr21:45512215 G
G
 A
A
 1 a0001c0082
a0001c0082
 1 HG02818.hp1
HG02818.hp1
 synonymous_variant LOW c.3837G>A
c.3837G>A
 p.Ser1279Ser
p.Ser1279Ser
 COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 3903/5408 3837/4020 1279/1339 chr21 45512215

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
chr21:45512404 G
G
 A
A
 1 a0001c0005t0007
a0001c0005t0007
 2 HG02165.hp2
NA18954.hp2
HG02165.hp2
NA18954.hp2
 3_prime_UTR_variant MODIFIER c.*6G>A
c.*6G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 6 chr21 45512404
chr21:45512414 G
G
 A
A
 52 a0001c0001t0001
a0001c0001t0013
a0001c0002t0001
others(49): Show 
a0001c0001t0001
a0001c0001t0013
a0001c0002t0001
a0001c0002t0012
a0001c0003t0001
a0001c0003t0008
a0001c0004t0001
a0001c0011t0001
a0001c0022t0001
a0001c0024t0001
a0001c0027t0001
a0001c0032t0001
a0001c0035t0001
a0001c0037t0001
a0001c0041t0001
a0001c0053t0001
a0001c0061t0001
a0001c0063t0001
a0001c0064t0001
a0001c0079t0001
a0001c0082t0008
a0001c0087t0001
a0001c0089t0001
a0001c0093t0001
a0001c0098t0001
a0002c0020t0001
a0002c0067t0001
a0002c0083t0001
a0002c0103t0001
a0003c0009t0001
a0003c0015t0001
a0003c0046t0001
a0003c0047t0001
a0004c0091t0001
a0004c0100t0001
a0005c0036t0001
a0005c0058t0001
a0005c0060t0001
a0006c0026t0001
a0007c0034t0001
a0009c0016t0001
a0010c0014t0001
a0011c0040t0001
a0013c0051t0001
a0016c0042t0001
a0018c0095t0001
a0026c0044t0001
a0027c0070t0001
a0028c0097t0001
a0030c0056t0001
a0034c0075t0001
a0035c0078t0001
 148 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(145): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*16G>A
c.*16G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 16 chr21 45512414
chr21:45512469 G
G
 A
A
 58 a0001c0001t0001
a0001c0001t0004
a0001c0001t0013
others(55): Show 
a0001c0001t0001
a0001c0001t0004
a0001c0001t0013
a0001c0002t0001
a0001c0002t0012
a0001c0003t0001
a0001c0004t0001
a0001c0011t0001
a0001c0022t0001
a0001c0024t0001
a0001c0027t0001
a0001c0032t0001
a0001c0035t0001
a0001c0037t0001
a0001c0038t0004
a0001c0041t0001
a0001c0053t0001
a0001c0061t0001
a0001c0063t0001
a0001c0064t0001
a0001c0074t0004
a0001c0079t0001
a0001c0080t0004
a0001c0087t0001
a0001c0089t0001
a0001c0093t0001
a0001c0098t0001
a0002c0012t0004
a0002c0020t0001
a0002c0067t0001
a0002c0083t0001
a0002c0103t0001
a0003c0009t0001
a0003c0015t0001
a0003c0046t0001
a0003c0047t0001
a0004c0091t0001
a0004c0100t0001
a0005c0036t0001
a0005c0058t0001
a0005c0060t0001
a0006c0026t0001
a0007c0034t0001
a0009c0016t0001
a0010c0014t0001
a0011c0040t0001
a0013c0051t0001
a0013c0102t0004
a0016c0042t0001
a0018c0095t0001
a0026c0044t0001
a0027c0070t0001
a0028c0097t0001
a0030c0056t0001
a0034c0075t0001
a0035c0078t0001
a0036c0048t0004
a0037c0049t0004
 159 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(156): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*71G>A
c.*71G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 71 chr21 45512469
chr21:45512485 G
G
 A
A
 1 a0001c0013t0014
a0001c0013t0014
 1 HG00642.hp2
HG00642.hp2
 3_prime_UTR_variant MODIFIER c.*87G>A
c.*87G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 87 chr21 45512485
chr21:45512611 C
C
 T
T
 2 a0020c0094t0011
a0031c0092t0011
a0020c0094t0011
a0031c0092t0011
 2 HG01496.hp1
HG02717.hp1
HG01496.hp1
HG02717.hp1
 3_prime_UTR_variant MODIFIER c.*213C>T
c.*213C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 213 chr21 45512611
chr21:45512675 T
T
 C
C
 4 a0001c0069t0005
a0008c0018t0005
a0008c0101t0005
others(1): Show 
a0001c0069t0005
a0008c0018t0005
a0008c0101t0005
a0019c0096t0015
 6 HG02109.hp2
HG02280.hp1
HG02630.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*277T>C
c.*277T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 277 chr21 45512675
chr21:45512704 G
G
 C
C
 15 a0001c0002t0003
a0001c0003t0003
a0001c0005t0003
others(12): Show 
a0001c0002t0003
a0001c0003t0003
a0001c0005t0003
a0001c0006t0003
a0001c0017t0003
a0001c0019t0003
a0001c0055t0003
a0001c0073t0003
a0001c0081t0003
a0002c0020t0003
a0004c0099t0003
a0006c0026t0003
a0006c0028t0003
a0015c0029t0003
a0033c0077t0003
 26 HG00280.hp1
HG01192.hp1
HG01361.hp1
others(23): Show 
HG00280.hp1
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02922.hp1
HG03239.hp2
NA18747.hp2
NA18953.hp2
NA18959.hp1
NA18969.hp2
NA19012.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*306G>C
c.*306G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 306 chr21 45512704
chr21:45512738 G
G
 A
A
 61 a0001c0001t0001
a0001c0001t0004
a0001c0001t0013
others(58): Show 
a0001c0001t0001
a0001c0001t0004
a0001c0001t0013
a0001c0002t0001
a0001c0002t0012
a0001c0003t0001
a0001c0003t0008
a0001c0004t0001
a0001c0011t0001
a0001c0022t0001
a0001c0024t0001
a0001c0027t0001
a0001c0032t0001
a0001c0035t0001
a0001c0037t0001
a0001c0038t0004
a0001c0041t0001
a0001c0053t0001
a0001c0061t0001
a0001c0063t0001
a0001c0064t0001
a0001c0074t0004
a0001c0079t0001
a0001c0080t0004
a0001c0082t0008
a0001c0087t0001
a0001c0089t0001
a0001c0093t0001
a0001c0098t0001
a0002c0012t0004
a0002c0020t0001
a0002c0067t0001
a0002c0083t0001
a0002c0103t0001
a0003c0009t0001
a0003c0015t0001
a0003c0046t0001
a0003c0047t0001
a0004c0091t0001
a0004c0100t0001
a0005c0036t0001
a0005c0058t0001
a0005c0060t0001
a0006c0026t0001
a0007c0034t0001
a0009c0016t0001
a0010c0014t0001
a0011c0040t0001
a0013c0051t0001
a0013c0102t0004
a0014c0039t0009
a0016c0042t0001
a0018c0095t0001
a0026c0044t0001
a0027c0070t0001
a0028c0097t0001
a0030c0056t0001
a0034c0075t0001
a0035c0078t0001
a0036c0048t0004
a0037c0049t0004
 163 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(160): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*340G>A
c.*340G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 340 chr21 45512738
chr21:45512829 G
G
 A
A
 1 a0001c0002t0012
a0001c0002t0012
 1 HG02809.hp2
HG02809.hp2
 3_prime_UTR_variant MODIFIER c.*431G>A
c.*431G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 431 chr21 45512829
chr21:45513250 G
G
 C
C
 5 a0001c0069t0005
a0008c0018t0005
a0008c0101t0005
others(2): Show 
a0001c0069t0005
a0008c0018t0005
a0008c0101t0005
a0022c0068t0010
a0024c0066t0010
 7 HG02109.hp2
HG02630.hp2
HG02895.hp2
others(4): Show 
HG02109.hp2
HG02630.hp2
HG02895.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*852G>C
c.*852G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 852 chr21 45513250
chr21:45513287 C
C
 T
T
 1 a0001c0001t0013
a0001c0001t0013
 1 HG01928.hp2
HG01928.hp2
 3_prime_UTR_variant MODIFIER c.*889C>T
c.*889C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 889 chr21 45513287
chr21:45513316 C
C
 T
T
 4 a0001c0002t0006
a0001c0005t0006
a0003c0010t0006
others(1): Show 
a0001c0002t0006
a0001c0005t0006
a0003c0010t0006
a0003c0045t0006
 5 HG02080.hp1
NA18983.hp1
NA19010.hp2
others(2): Show 
HG02080.hp1
NA18983.hp1
NA19010.hp2
NA19012.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*918C>T
c.*918C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 918 chr21 45513316
chr21:45513467 C
C
 T
T
 1 a0001c0002t0017
a0001c0002t0017
 1 NA18747.hp1
NA18747.hp1
 3_prime_UTR_variant MODIFIER c.*1069C>T
c.*1069C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 1069 chr21 45513467
chr21:45513546 C
C
 CCA
CCA
 70 a0001c0001t0001
a0001c0001t0004
a0001c0001t0013
others(67): Show 
a0001c0001t0001
a0001c0001t0004
a0001c0001t0013
a0001c0002t0001
a0001c0002t0012
a0001c0003t0001
a0001c0003t0008
a0001c0004t0001
a0001c0004t0016
a0001c0011t0001
a0001c0022t0001
a0001c0024t0001
a0001c0027t0001
a0001c0032t0001
a0001c0035t0001
a0001c0037t0001
a0001c0038t0004
a0001c0041t0001
a0001c0053t0001
a0001c0061t0001
a0001c0063t0001
a0001c0064t0001
a0001c0069t0005
a0001c0074t0004
a0001c0079t0001
a0001c0080t0004
a0001c0082t0008
a0001c0087t0001
a0001c0089t0001
a0001c0093t0001
a0001c0098t0001
a0002c0012t0004
a0002c0020t0001
a0002c0067t0001
a0002c0083t0001
a0002c0103t0001
a0003c0009t0001
a0003c0015t0001
a0003c0046t0001
a0003c0047t0001
a0004c0091t0001
a0004c0100t0001
a0005c0036t0001
a0005c0058t0001
a0005c0060t0001
a0006c0026t0001
a0007c0034t0001
a0008c0018t0005
a0008c0101t0005
a0009c0016t0001
a0010c0014t0001
a0011c0040t0001
a0013c0051t0001
a0013c0102t0004
a0014c0039t0009
a0016c0042t0001
a0018c0095t0001
a0019c0096t0015
a0020c0094t0011
a0022c0068t0010
a0024c0066t0010
a0026c0044t0001
a0027c0070t0001
a0028c0097t0001
a0030c0056t0001
a0031c0092t0011
a0034c0075t0001
a0035c0078t0001
a0036c0048t0004
a0037c0049t0004
 174 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(171): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1148_*1149insCA
c.*1148_*1149insCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 1149 chr21 45513546
chr21:45513589 G
G
 A
A
 1 a0001c0001t0013
a0001c0001t0013
 1 HG01928.hp2
HG01928.hp2
 3_prime_UTR_variant MODIFIER c.*1191G>A
c.*1191G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 42/42 1191 chr21 45513589

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
chr21:45405285 C
C
 CGGCTGCG
others(1): Show 
CGGCTGCGG
 35 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0187
others(32): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0188
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0016g0051
a0001c0006t0003g0204
a0001c0007t0002g0194
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0021
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0199
a0003c0015t0001g0189
a0003c0015t0001g0202
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0031c0092t0011g0190
 35 HG00140.hp1
HG01167.hp2
HG01496.hp1
others(32): Show 
HG00140.hp1
HG01167.hp2
HG01496.hp1
HG01515.hp2
HG01928.hp1
HG02055.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp1
HG03942.hp2
HG04184.hp2
NA18522.hp2
NA18964.hp2
NA18998.hp1
NA18999.hp1
NA19007.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.11+47_11+54dupCTGC
others(4): Show 
c.11+47_11+54dupCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405285
chr21:45405285 C
C
 CGGCTGCG
others(10): Show 
CGGCTGCGGGGGCTGCGG
 8 a0001c0005t0003g0211
a0001c0007t0002g0208
a0001c0013t0002g0206
others(5): Show 
a0001c0005t0003g0211
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0002c0084t0002g0212
a0009c0016t0001g0209
 8 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(5): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01978.hp2
HG02735.hp1
HG03831.hp1
 intron_variant MODIFIER c.11+55_11+56insCTGC
others(13): Show 
c.11+55_11+56insCTGCGGGGCTGCGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405285
chr21:45405285 C
C
 CGGCTGCG
others(10): Show 
CGGCTGCGGGGGTCGCGG
 3 a0001c0002t0002g0283
a0007c0034t0001g0282
a0007c0076t0002g0281
a0001c0002t0002g0283
a0007c0034t0001g0282
a0007c0076t0002g0281
 3 NA18952.hp2
NA18964.hp1
NA19060.hp2
NA18952.hp2
NA18964.hp1
NA19060.hp2
 intron_variant MODIFIER c.11+47_11+63dupCTGC
others(13): Show 
c.11+47_11+63dupCTGCGGGGGTCGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405285
chr21:45405287 G
G
 GCTGCGGG
others(58): Show 
GCTGCGGGGCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCT
GGGTCCTGCGGGGGTC
 2 a0002c0021t0002g0001
a0003c0046t0001g0002
a0002c0021t0002g0001
a0003c0046t0001g0002
 2 HG00733.hp2
HG02965.hp1
HG00733.hp2
HG02965.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(61): Show 
c.11+54_11+55insCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGG
GTCGGCTGGGTCCTGCGGGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(38): Show 
GCTGCGGGGCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGGGTC
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(41): Show 
c.11+54_11+55insCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGG
GTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(49): Show 
GCTGCGGGGCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGGGTCCTGC
GGGGGTC
 8 a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
others(5): Show 
a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0012c0088t0002g0006
a0022c0068t0010g0004
 8 HG01074.hp2
HG01081.hp1
HG02055.hp2
others(5): Show 
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02451.hp2
HG02895.hp2
HG02965.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(52): Show 
c.11+54_11+55insCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGG
GTCCTGCGGGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(60): Show 
GCTGCGGGGCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGGGTCCTGC
GGGGGTCCTGCGGGGGTC
 1 a0011c0104t0002g0003
a0011c0104t0002g0003
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(63): Show 
c.11+54_11+55insCTGCGGGGCTGCGGGGGTCCCGGGGGTCGGCTGG
GTCCTGCGGGGGTCCTGCGGGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(38): Show 
GCTGCGGGGCTGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC
 1 a0001c0004t0001g0013
a0001c0004t0001g0013
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(41): Show 
c.11+54_11+55insCTGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGG
GTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(51): Show 
GCTGCGGGGCTGCGGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTCCT
GCGGGGGTC
 2 a0003c0010t0006g0014
a0017c0043t0002g0015
a0003c0010t0006g0014
a0017c0043t0002g0015
 2 NA19010.hp2
NA19091.hp1
NA19010.hp2
NA19091.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(54): Show 
c.11+54_11+55insCTGCGGGGGGTCCCGGGGGTCCCGGGGGTCGGCT
GGGTCCTGCGGGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(39): Show 
GCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTC
 3 a0001c0004t0001g0032
a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0004t0001g0032
a0001c0054t0002g0201
a0001c0074t0004g0200
 3 HG01243.hp1
HG03540.hp1
NA19060.hp1
HG01243.hp1
HG03540.hp1
NA19060.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(42): Show 
c.11+54_11+55insCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTG
GGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(50): Show 
GCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTCCTG
CGGGGCTC
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(53): Show 
c.11+54_11+55insCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTG
GGTCCTGCGGGGCTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(50): Show 
GCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTCCTG
CGGGGGTC
 145 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
others(142): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0004g0129
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0008g0166
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0006g0173
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0013t0002g0122
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0028t0003g0059
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0011c0040t0001g0076
a0012c0065t0002g0096
a0016c0042t0001g0118
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 145 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(142): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18966.hp1
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(53): Show 
c.11+54_11+55insCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTG
GGTCCTGCGGGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(61): Show 
GCTGCGGGGCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTCCTG
CGGGGGTCCTGCGGGGGTC
 5 a0001c0001t0001g0031
a0001c0038t0004g0028
a0001c0038t0004g0029
others(2): Show 
a0001c0001t0001g0031
a0001c0038t0004g0028
a0001c0038t0004g0029
a0004c0099t0003g0030
a0008c0101t0005g0027
 5 HG02486.hp2
HG02572.hp1
HG02622.hp1
others(2): Show 
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02922.hp1
HG03453.hp1
 intron_variant MODIFIER c.11+54_11+55insCTGC
others(64): Show 
c.11+54_11+55insCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTG
GGTCCTGCGGGGGTCCTGCGGGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(21): Show 
GCTGCGGGGGCTGCGGGGCTGCGGGGGTC
 2 a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0213
a0001c0004t0001g0214
 2 HG03540.hp2
HG03688.hp2
HG03540.hp2
HG03688.hp2
 intron_variant MODIFIER c.11+55_11+56insCTGC
others(24): Show 
c.11+55_11+56insCTGCGGGGCTGCGGGGGTCCTGCGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(40): Show 
GCTGCGGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.11+55_11+56insGTCG
others(43): Show 
c.11+55_11+56insGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCG
GGTCCTGCGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(42): Show 
GCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGCTGGGTCCTGCGGGGGTC
 2 a0001c0001t0001g0250
a0001c0003t0001g0249
a0001c0001t0001g0250
a0001c0003t0001g0249
 2 HG03654.hp2
NA18990.hp2
HG03654.hp2
NA18990.hp2
 intron_variant MODIFIER c.11+57_11+58insCCGG
others(45): Show 
c.11+57_11+58insCCGGGGGTCCCGGGGGTCGGCTGGGTCCTGCGGG
GGTCCTGCGGGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(40): Show 
GCTGCGGGGGTCGCGGGGCTGCGGGGGGTCGCGGGGCTCGGCCGGGTC
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(43): Show 
c.11+63_11+64insCTGCGGGGGGTCGCGGGGCTCGGCCGGGTCCTGC
GGGGGTCGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(39): Show 
GCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC
 18 a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
others(15): Show 
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0269
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0010c0014t0001g0265
a0010c0014t0001g0275
 18 HG00423.hp1
HG00558.hp2
HG00609.hp1
others(15): Show 
HG00423.hp1
HG00558.hp2
HG00609.hp1
HG01257.hp1
HG01496.hp2
HG01928.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02165.hp2
NA18945.hp1
NA18949.hp2
NA18954.hp2
NA18966.hp2
NA18969.hp2
NA19002.hp2
NA19064.hp1
NA19074.hp1
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(42): Show 
c.11+63_11+64insCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCG
GGGGTCGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(85): Show 
GCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTG
CGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC
 1 a0001c0004t0001g0255
a0001c0004t0001g0255
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(88): Show 
c.11+63_11+64insCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCG
GGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCGGGGG
TCGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(77): Show 
GCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTG
CGGGGGTCGCGGGGGTCGCGGGGCTCGGCCGGGTC
 1 a0010c0014t0001g0279
a0010c0014t0001g0279
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(80): Show 
c.11+63_11+64insCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCG
GGGGTCGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCGGGGGTCGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(141): Show 
GCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGG
GGCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCG
GGGCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTC
 1 a0001c0005t0002g0280
a0001c0005t0002g0280
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(144): Show 
c.11+63_11+64insCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGG
CTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGG
GCTGCGGGGGTCGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTG
CGGGGGTCGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405287 G
G
 GCTGCGGG
others(42): Show 
GCTGCGGGGGTCGCGGGGGTCCCGGGGCTCGGCTGGGTCCTGCGGGGGTC
 2 a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0030t0002g0285
a0001c0030t0002g0286
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.11+66_11+67insCCGG
others(45): Show 
c.11+66_11+67insCCGGGGCTCGGCTGGGTCCTGCGGGGGTCCTGCG
GGGGTCGCGGGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405287
chr21:45405298 C
C
 CCT
CCT
 9 a0001c0004t0001g0032
a0001c0005t0003g0211
a0001c0007t0002g0208
others(6): Show 
a0001c0004t0001g0032
a0001c0005t0003g0211
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0002c0084t0002g0212
a0009c0016t0001g0209
 9 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(6): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01978.hp2
HG02735.hp1
HG03831.hp1
NA19060.hp1
 intron_variant MODIFIER c.11+57_11+58insCT
c.11+57_11+58insCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405298
chr21:45405298 C
C
 CGCGGGGC
others(1): Show 
CGCGGGGCT
 6 a0001c0001t0001g0258
a0001c0006t0003g0259
a0001c0008t0002g0260
others(3): Show 
a0001c0001t0001g0258
a0001c0006t0003g0259
a0001c0008t0002g0260
a0001c0024t0001g0256
a0001c0061t0001g0257
a0009c0016t0002g0252
 6 HG01943.hp2
HG02083.hp1
HG02273.hp1
others(3): Show 
HG01943.hp2
HG02083.hp1
HG02273.hp1
HG04184.hp1
NA18983.hp2
NA19065.hp1
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(4): Show 
c.11+63_11+64insCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405298
chr21:45405298 C
C
 CGCGGGGC
others(30): Show 
CGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCT
 2 a0001c0001t0001g0253
a0001c0003t0001g0254
a0001c0001t0001g0253
a0001c0003t0001g0254
 2 HG02004.hp2
NA18990.hp1
HG02004.hp2
NA18990.hp1
 intron_variant MODIFIER c.11+63_11+64insCTGC
others(33): Show 
c.11+63_11+64insCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCG
GGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405298
chr21:45405299 G
G
 C
C
 66 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0187
others(63): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0006g0218
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0021
a0001c0024t0001g0229
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0053t0001g0244
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0083t0001g0237
a0003c0009t0001g0247
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0005c0036t0001g0245
a0006c0026t0003g0219
a0006c0028t0003g0230
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0019c0096t0015g0045
a0031c0092t0011g0190
 66 HG00099.hp2
HG00140.hp1
HG00408.hp1
others(63): Show 
HG00099.hp2
HG00140.hp1
HG00408.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG01106.hp2
HG01167.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02132.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18949.hp1
NA18964.hp2
NA18983.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19007.hp1
NA19012.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11+58G>C
c.11+58G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405299
chr21:45405307 CGCGGGGC
others(13): Show 
CGCGGGGCTCGGCCGGGTCCT
 C
C
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.12-65_12-46delCTCG
others(16): Show 
c.12-65_12-46delCTCGGCCGGGTCCTGCGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405307
chr21:45405308 G
G
 C
C
 87 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(84): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0006g0218
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0003g0284
a0001c0022t0001g0021
a0001c0024t0001g0229
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0082t0008g0053
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0247
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0006c0026t0003g0219
a0006c0028t0003g0230
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0101t0005g0027
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0019c0096t0015g0045
a0026c0044t0001g0037
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 87 HG00099.hp2
HG00140.hp1
HG00408.hp1
others(84): Show 
HG00099.hp2
HG00140.hp1
HG00408.hp1
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG01106.hp2
HG01167.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18949.hp1
NA18964.hp1
NA18964.hp2
NA18983.hp1
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19012.hp2
NA19060.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11+67G>C
c.11+67G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405308
chr21:45405314 C
C
 G
G
 29 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0187
others(26): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0188
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0004t0016g0051
a0001c0007t0002g0194
a0001c0011t0001g0050
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0199
a0003c0015t0001g0189
a0003c0015t0001g0202
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0002g0252
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0031c0092t0011g0190
 29 HG00140.hp1
HG01167.hp2
HG01496.hp1
others(26): Show 
HG00140.hp1
HG01167.hp2
HG01496.hp1
HG02055.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03942.hp2
HG04184.hp1
NA18964.hp1
NA18964.hp2
NA18998.hp1
NA18999.hp1
NA19007.hp1
NA19060.hp2
NA20300.hp2
 intron_variant MODIFIER c.12-65C>G
c.12-65C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405314
chr21:45405319 C
C
 CTGGGTCC
others(4): Show 
CTGGGTCCTGCG
 9 a0001c0001t0001g0052
a0001c0002t0002g0047
a0001c0003t0001g0048
others(6): Show 
a0001c0001t0001g0052
a0001c0002t0002g0047
a0001c0003t0001g0048
a0001c0004t0016g0051
a0001c0011t0001g0050
a0001c0082t0008g0053
a0002c0012t0004g0049
a0011c0040t0001g0046
a0019c0096t0015g0045
 9 HG01167.hp2
HG02258.hp2
HG02280.hp1
others(6): Show 
HG01167.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02735.hp2
HG02818.hp1
HG03486.hp1
HG03942.hp2
NA20300.hp2
 intron_variant MODIFIER c.12-60_12-59insTGGG
others(7): Show 
c.12-60_12-59insTGGGTCCTGCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405319
chr21:45405319 C
C
 CTGGGTCC
others(53): Show 
CTGGGTCCTGCGGGGGTCCTGCGGGGGTCCCGGGGGTCCCGGGGGTCGGC
TGGGTCCTGCG
 2 a0001c0001t0001g0025
a0001c0004t0001g0026
a0001c0001t0001g0025
a0001c0004t0001g0026
 2 HG02615.hp2
HG03453.hp2
HG02615.hp2
HG03453.hp2
 intron_variant MODIFIER c.12-60_12-59insTGGG
others(56): Show 
c.12-60_12-59insTGGGTCCTGCGGGGGTCCTGCGGGGGTCCCGGGG
GTCCCGGGGGTCGGCTGGGTCCTGCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405319
chr21:45405320 C
C
 G
G
 11 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0002t0002g0047
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0002t0002g0047
a0001c0003t0001g0048
a0001c0004t0001g0026
a0001c0004t0016g0051
a0001c0011t0001g0050
a0001c0082t0008g0053
a0002c0012t0004g0049
a0011c0040t0001g0046
a0019c0096t0015g0045
 11 HG01167.hp2
HG02258.hp2
HG02280.hp1
others(8): Show 
HG01167.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp2
HG02735.hp2
HG02818.hp1
HG03453.hp2
HG03486.hp1
HG03942.hp2
NA20300.hp2
 intron_variant MODIFIER c.12-59C>G
c.12-59C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405320
chr21:45405320 C
C
 T
T
 17 a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
others(14): Show 
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0002g0188
a0001c0003t0001g0193
a0001c0007t0002g0194
a0002c0012t0004g0199
a0003c0015t0001g0189
a0003c0015t0001g0202
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0002g0252
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
 17 HG01496.hp1
HG02055.hp1
HG02257.hp2
others(14): Show 
HG01496.hp1
HG02055.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03195.hp2
HG04184.hp1
NA18964.hp1
NA18964.hp2
NA18998.hp1
NA18999.hp1
NA19007.hp1
NA19060.hp2
 intron_variant MODIFIER c.12-59C>T
c.12-59C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405320
chr21:45405327 TGCGGGGG
others(2): Show 
TGCGGGGGTC
 T
T
 9 a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0003t0001g0193
others(6): Show 
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
 9 HG01496.hp1
HG02055.hp1
HG02257.hp2
others(6): Show 
HG01496.hp1
HG02055.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03195.hp2
 intron_variant MODIFIER c.12-42_12-34delGCGG
others(5): Show 
c.12-42_12-34delGCGGGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405327
chr21:45405328 G
G
 C
C
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.12-51G>C
c.12-51G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405328
chr21:45405336 C
C
 CCT
CCT
 3 a0001c0001t0001g0187
a0001c0002t0002g0188
a0003c0015t0001g0189
a0001c0001t0001g0187
a0001c0002t0002g0188
a0003c0015t0001g0189
 3 NA18964.hp2
NA18998.hp1
NA19007.hp1
NA18964.hp2
NA18998.hp1
NA19007.hp1
 intron_variant MODIFIER c.12-43_12-42insCT
c.12-43_12-42insCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405336
chr21:45405337 G
G
 C
C
 1 a0003c0009t0001g0054
a0003c0009t0001g0054
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.12-42G>C
c.12-42G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405337
chr21:45405340 G
G
 GGGGTCGC
others(20): Show 
GGGGTCGCGGGGGTCGCGGGGCTCGGCC
 7 a0001c0001t0001g0187
a0001c0002t0002g0188
a0003c0015t0001g0189
others(4): Show 
a0001c0001t0001g0187
a0001c0002t0002g0188
a0003c0015t0001g0189
a0003c0015t0001g0202
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0002g0252
 7 HG04184.hp1
NA18964.hp1
NA18964.hp2
others(4): Show 
HG04184.hp1
NA18964.hp1
NA18964.hp2
NA18998.hp1
NA18999.hp1
NA19007.hp1
NA19060.hp2
 intron_variant MODIFIER c.12-34_12-33insGCGG
others(23): Show 
c.12-34_12-33insGCGGGGGTCGCGGGGCTCGGCCGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405340
chr21:45405340 G
G
 GGGGTCGG
others(49): Show 
GGGGTCGGCTGGGTCCTGCGGGGGTCGCGGGGGTCGCGGGGGTCGCGGGG
CTCGGCC
 1 a0003c0009t0001g0054
a0003c0009t0001g0054
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.12-34_12-33insGGCT
others(52): Show 
c.12-34_12-33insGGCTGGGTCCTGCGGGGGTCGCGGGGGTCGCGGG
GGTCGCGGGGCTCGGCCGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 INFO_REALIGN_3_PRIME chr21 45405340
chr21:45405352 G
G
 T
T
 9 a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0003t0001g0193
others(6): Show 
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
 9 HG01496.hp1
HG02055.hp1
HG02257.hp2
others(6): Show 
HG01496.hp1
HG02055.hp1
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03195.hp2
 intron_variant MODIFIER c.12-27G>T
c.12-27G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 1/41 chr21 45405352
chr21:45405560 C
C
 T
T
 1 a0001c0001t0002g0278
a0001c0001t0002g0278
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.106+87C>T
c.106+87C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405560
chr21:45405694 G
G
 T
T
 1 a0002c0021t0002g0186
a0002c0021t0002g0186
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.106+221G>T
c.106+221G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405694
chr21:45405750 G
G
 A
A
 7 a0001c0001t0001g0033
a0001c0073t0003g0034
a0001c0080t0004g0057
others(4): Show 
a0001c0001t0001g0033
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0087t0001g0055
a0002c0021t0002g0186
a0004c0057t0002g0035
a0004c0091t0001g0056
 7 HG02109.hp1
HG02451.hp1
HG02970.hp1
others(4): Show 
HG02109.hp1
HG02451.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG06807.hp2
NA18906.hp1
 intron_variant MODIFIER c.106+277G>A
c.106+277G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405750
chr21:45405763 G
G
 C
C
 18 a0001c0001t0001g0191
a0001c0003t0001g0287
a0001c0004t0001g0213
others(15): Show 
a0001c0001t0001g0191
a0001c0003t0001g0287
a0001c0004t0001g0213
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0002c0012t0004g0058
a0002c0021t0002g0001
a0003c0046t0001g0002
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0009c0016t0002g0252
a0011c0040t0001g0046
a0019c0096t0015g0045
a0031c0092t0011g0190
 18 HG00099.hp1
HG00280.hp1
HG00642.hp2
others(15): Show 
HG00099.hp1
HG00280.hp1
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG01123.hp1
HG01346.hp2
HG01496.hp1
HG01978.hp2
HG02258.hp2
HG02280.hp1
HG02818.hp2
HG02965.hp1
HG03239.hp1
HG03540.hp2
HG04184.hp1
NA18964.hp1
NA19060.hp2
 intron_variant MODIFIER c.106+290G>C
c.106+290G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405763
chr21:45405808 C
C
 G
G
 222 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(219): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 222 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(219): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+335C>G
c.106+335C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405808
chr21:45405875 G
G
 A
A
 95 a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
others(92): Show 
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0007t0002g0078
a0001c0013t0002g0122
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0199
a0002c0103t0001g0136
a0003c0010t0002g0068
a0003c0010t0006g0014
a0003c0047t0001g0069
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0011c0040t0001g0076
a0012c0065t0002g0096
a0016c0042t0001g0118
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 95 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(92): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02132.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18961.hp2
NA18975.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19064.hp1
NA19070.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+402G>A
c.106+402G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405875
chr21:45405881 G
G
 A
A
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.106+408G>A
c.106+408G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405881
chr21:45405985 C
C
 G
G
 1 a0001c0008t0002g0260
a0001c0008t0002g0260
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.106+512C>G
c.106+512C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45405985
chr21:45406060 C
C
 G
G
 1 a0001c0007t0002g0185
a0001c0007t0002g0185
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.106+587C>G
c.106+587C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406060
chr21:45406123 T
T
 G
G
 1 a0002c0012t0004g0058
a0002c0012t0004g0058
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.106+650T>G
c.106+650T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406123
chr21:45406598 A
A
 C
C
 111 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0093
others(108): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0004t0001g0026
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0013t0002g0122
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0054t0002g0201
a0001c0062t0002g0097
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0199
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0010t0006g0014
a0004c0023t0002g0138
a0004c0057t0002g0035
a0004c0091t0001g0056
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 111 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(108): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02132.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18961.hp2
NA18975.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19070.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+1125A>C
c.106+1125A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406598
chr21:45406667 C
C
 T
T
 2 a0002c0021t0002g0001
a0003c0046t0001g0002
a0002c0021t0002g0001
a0003c0046t0001g0002
 2 HG00733.hp2
HG02965.hp1
HG00733.hp2
HG02965.hp1
 intron_variant MODIFIER c.106+1194C>T
c.106+1194C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406667
chr21:45406762 G
G
 A
A
 99 a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0099
others(96): Show 
a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0004t0001g0026
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0013t0002g0122
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0199
a0002c0103t0001g0136
a0003c0010t0006g0014
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0016c0042t0001g0118
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 99 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(96): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18961.hp2
NA18975.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19070.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+1289G>A
c.106+1289G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406762
chr21:45406823 C
C
 A
A
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.106+1350C>A
c.106+1350C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406823
chr21:45406867 C
C
 G
G
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.106+1394C>G
c.106+1394C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406867
chr21:45406897 C
C
 T
T
 91 a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
others(88): Show 
a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0017c0043t0002g0015
a0018c0095t0001g0146
a0021c0086t0002g0176
 91 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(88): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+1424C>T
c.106+1424C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406897
chr21:45406929 G
G
 T
T
 1 a0007c0034t0001g0141
a0007c0034t0001g0141
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.106+1456G>T
c.106+1456G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45406929
chr21:45407060 AG
AG
 A
A
 44 a0001c0001t0001g0175
a0001c0001t0001g0246
a0001c0001t0001g0248
others(41): Show 
a0001c0001t0001g0175
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0024t0001g0256
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0093t0001g0251
a0003c0009t0001g0247
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0017c0043t0002g0015
a0021c0086t0002g0176
 44 HG00423.hp1
HG00544.hp2
HG00558.hp2
others(41): Show 
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02273.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp2
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA19002.hp1
NA19002.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+1591delG
c.106+1591delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45407060
chr21:45407133 G
G
 A
A
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.106+1660G>A
c.106+1660G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407133
chr21:45407149 A
A
 G
G
 2 a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0054t0002g0201
a0001c0074t0004g0200
 2 HG01243.hp1
HG03540.hp1
HG01243.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+1676A>G
c.106+1676A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407149
chr21:45407270 C
C
 T
T
 7 a0001c0001t0001g0033
a0001c0073t0003g0034
a0001c0080t0004g0057
others(4): Show 
a0001c0001t0001g0033
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0087t0001g0055
a0002c0021t0002g0186
a0004c0057t0002g0035
a0004c0091t0001g0056
 7 HG02109.hp1
HG02451.hp1
HG02970.hp1
others(4): Show 
HG02109.hp1
HG02451.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG06807.hp2
NA18906.hp1
 intron_variant MODIFIER c.106+1797C>T
c.106+1797C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407270
chr21:45407411 G
G
 A
A
 14 a0001c0001t0004g0223
a0001c0003t0001g0221
a0001c0004t0001g0214
others(11): Show 
a0001c0001t0004g0223
a0001c0003t0001g0221
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0007t0002g0220
a0002c0084t0002g0212
a0006c0026t0003g0219
a0015c0029t0003g0226
a0015c0029t0003g0227
a0022c0068t0010g0004
a0027c0070t0001g0012
 14 HG00099.hp2
HG01106.hp2
HG01515.hp1
others(11): Show 
HG00099.hp2
HG01106.hp2
HG01515.hp1
HG01517.hp1
HG01981.hp2
HG02071.hp2
HG02257.hp1
HG02735.hp1
HG02895.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+1938G>A
c.106+1938G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407411
chr21:45407440 T
T
 C
C
 2 a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0054t0002g0201
a0001c0074t0004g0200
 2 HG01243.hp1
HG03540.hp1
HG01243.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+1967T>C
c.106+1967T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407440
chr21:45407488 C
C
 T
T
 1 a0001c0004t0001g0018
a0001c0004t0001g0018
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.106+2015C>T
c.106+2015C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407488
chr21:45407616 T
T
 C
C
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+2143T>C
c.106+2143T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407616
chr21:45407691 A
A
 C
C
 2 a0001c0001t0001g0025
a0001c0004t0001g0026
a0001c0001t0001g0025
a0001c0004t0001g0026
 2 HG02615.hp2
HG03453.hp2
HG02615.hp2
HG03453.hp2
 intron_variant MODIFIER c.106+2218A>C
c.106+2218A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407691
chr21:45407873 C
C
 T
T
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+2400C>T
c.106+2400C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407873
chr21:45407949 C
C
 T
T
 2 a0001c0002t0002g0178
a0001c0017t0002g0179
a0001c0002t0002g0178
a0001c0017t0002g0179
 2 HG00733.hp1
HG01070.hp1
HG00733.hp1
HG01070.hp1
 intron_variant MODIFIER c.106+2476C>T
c.106+2476C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407949
chr21:45407977 G
G
 T
T
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.106+2504G>T
c.106+2504G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45407977
chr21:45408007 C
C
 T
T
 2 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0001g0010
a0002c0020t0001g0011
 2 HG01074.hp2
HG01081.hp1
HG01074.hp2
HG01081.hp1
 intron_variant MODIFIER c.106+2534C>T
c.106+2534C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408007
chr21:45408202 A
A
 G
G
 249 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(246): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 249 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(246): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+2729A>G
c.106+2729A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408202
chr21:45408306 G
G
 A
A
 1 a0001c0005t0002g0070
a0001c0005t0002g0070
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.106+2833G>A
c.106+2833G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408306
chr21:45408339 A
A
 G
G
 94 a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
others(91): Show 
a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0137
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0017c0043t0002g0015
a0018c0095t0001g0146
a0021c0086t0002g0176
 94 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(91): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02723.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03486.hp1
HG03579.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+2866A>G
c.106+2866A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408339
chr21:45408586 G
G
 A
A
 3 a0001c0004t0001g0071
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0004t0001g0071
a0001c0035t0001g0072
a0001c0035t0001g0073
 3 NA18952.hp1
NA19005.hp2
NA19057.hp2
NA18952.hp1
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.106+3113G>A
c.106+3113G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408586
chr21:45408626 G
G
 C
C
 1 a0007c0034t0001g0141
a0007c0034t0001g0141
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.106+3153G>C
c.106+3153G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408626
chr21:45408628 G
G
 C
C
 2 a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0054t0002g0201
a0001c0074t0004g0200
 2 HG01243.hp1
HG03540.hp1
HG01243.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+3155G>C
c.106+3155G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408628
chr21:45408739 G
G
 T
T
 1 a0001c0004t0001g0018
a0001c0004t0001g0018
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.106+3266G>T
c.106+3266G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408739
chr21:45408786 G
G
 C
C
 5 a0001c0037t0001g0062
a0001c0069t0005g0038
a0008c0101t0005g0027
others(2): Show 
a0001c0037t0001g0062
a0001c0069t0005g0038
a0008c0101t0005g0027
a0026c0044t0001g0037
a0028c0097t0001g0036
 5 HG02109.hp2
HG02922.hp2
HG02970.hp2
others(2): Show 
HG02109.hp2
HG02922.hp2
HG02970.hp2
HG03453.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+3313G>C
c.106+3313G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408786
chr21:45408815 C
C
 T
T
 154 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(151): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0122
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0054t0002g0201
a0001c0062t0002g0097
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0010t0006g0014
a0004c0023t0002g0138
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0020c0094t0011g0075
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 154 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(151): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18961.hp2
NA18975.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19070.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+3342C>T
c.106+3342C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45408815
chr21:45409041 T
T
 G
G
 4 a0011c0040t0001g0046
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0011c0040t0001g0046
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02258.hp2
HG02559.hp1
HG02630.hp1
others(1): Show 
HG02258.hp2
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+3568T>G
c.106+3568T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409041
chr21:45409041 T
T
 TGCTGAGC
others(16): Show 
TGCTGAGCACAGCCCCCAGGCTGG
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.106+3569_106+3570i
others(25): Show 
c.106+3569_106+3570insCTGAGCACAGCCCCCAGGCTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45409041
chr21:45409041 T
T
 TGGCTGAG
others(18): Show 
TGGCTGAGCACAGCCCCACAGGCTGG
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.106+3573_106+3574i
others(27): Show 
c.106+3573_106+3574insAGCACAGCCCCACAGGCTGGGGCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45409041
chr21:45409041 T
T
 TGGCTGAG
others(17): Show 
TGGCTGAGCACAGCCCCCAGGCTGG
 240 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(237): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 240 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(237): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+3573_106+3574i
others(26): Show 
c.106+3573_106+3574insAGCACAGCCCCCAGGCTGGGGCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45409041
chr21:45409073 C
C
 A
A
 2 a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0054t0002g0201
a0001c0074t0004g0200
 2 HG01243.hp1
HG03540.hp1
HG01243.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+3600C>A
c.106+3600C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409073
chr21:45409116 G
G
 A
A
 33 a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0003t0001g0221
others(30): Show 
a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0003t0001g0221
a0001c0004t0001g0018
a0001c0004t0001g0064
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0065
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0079t0001g0042
a0002c0012t0004g0040
a0002c0067t0001g0041
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0003g0219
a0008c0101t0005g0027
a0015c0029t0003g0226
a0015c0029t0003g0227
a0022c0068t0010g0004
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
 33 HG00099.hp2
HG01106.hp2
HG01515.hp1
others(30): Show 
HG00099.hp2
HG01106.hp2
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01981.hp2
HG02071.hp2
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02735.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
NA18522.hp2
NA19240.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+3643G>A
c.106+3643G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409116
chr21:45409156 C
C
 T
T
 1 a0002c0103t0001g0136
a0002c0103t0001g0136
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.106+3683C>T
c.106+3683C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409156
chr21:45409175 G
G
 A
A
 33 a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0003t0001g0221
others(30): Show 
a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0003t0001g0221
a0001c0004t0001g0018
a0001c0004t0001g0064
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0065
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0079t0001g0042
a0002c0012t0004g0040
a0002c0067t0001g0041
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0003g0219
a0008c0101t0005g0027
a0015c0029t0003g0226
a0015c0029t0003g0227
a0022c0068t0010g0004
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
 33 HG00099.hp2
HG01106.hp2
HG01515.hp1
others(30): Show 
HG00099.hp2
HG01106.hp2
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01981.hp2
HG02071.hp2
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02735.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
NA18522.hp2
NA19240.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+3702G>A
c.106+3702G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409175
chr21:45409447 T
T
 C
C
 98 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0142
others(95): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0017c0043t0002g0015
a0018c0095t0001g0146
a0021c0086t0002g0176
 98 HG00423.hp1
HG00438.hp1
HG00544.hp1
others(95): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02273.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+3974T>C
c.106+3974T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409447
chr21:45409644 G
G
 A
A
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+4171G>A
c.106+4171G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409644
chr21:45409781 G
G
 A
A
 2 a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0054t0002g0201
a0001c0074t0004g0200
 2 HG01243.hp1
HG03540.hp1
HG01243.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+4308G>A
c.106+4308G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409781
chr21:45409791 C
C
 T
T
 1 a0001c0003t0001g0287
a0001c0003t0001g0287
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+4318C>T
c.106+4318C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409791
chr21:45409804 T
T
 C
C
 1 a0001c0002t0002g0074
a0001c0002t0002g0074
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.106+4331T>C
c.106+4331T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409804
chr21:45409982 G
G
 A
A
 99 a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
others(96): Show 
a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0084t0002g0212
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0003g0219
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0017c0043t0002g0015
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
 99 HG00099.hp2
HG00423.hp1
HG00438.hp1
others(96): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01106.hp2
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02273.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02735.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+4509G>A
c.106+4509G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45409982
chr21:45410267 T
T
 TG
TG
 291 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(288): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 291 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(288): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+4797dupG
c.106+4797dupG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45410267
chr21:45410430 TGACCCTG
others(4): Show 
TGACCCTGCGGG
 T
T
 30 a0001c0001t0001g0093
a0001c0001t0001g0187
a0001c0001t0013g0276
others(27): Show 
a0001c0001t0001g0093
a0001c0001t0001g0187
a0001c0001t0013g0276
a0001c0002t0001g0080
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0137
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0090t0002g0089
a0003c0010t0006g0014
a0006c0026t0001g0083
a0006c0072t0002g0082
a0009c0016t0001g0084
a0032c0052t0002g0077
 30 HG00140.hp2
HG00423.hp2
HG00642.hp1
others(27): Show 
HG00140.hp2
HG00423.hp2
HG00642.hp1
HG00735.hp2
HG01070.hp2
HG01106.hp1
HG01123.hp2
HG01346.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01981.hp1
HG01993.hp1
HG02155.hp1
HG02602.hp2
HG02698.hp2
HG03017.hp2
HG03834.hp1
HG04115.hp2
HG04204.hp2
NA18952.hp1
NA18975.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19057.hp2
NA19070.hp2
NA20129.hp2
 intron_variant MODIFIER c.106+4963_106+4973d
others(13): Show 
c.106+4963_106+4973delTGCGGGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45410430
chr21:45410432 A
A
 AC
AC
 261 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(258): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 261 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(258): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
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
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.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
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+4962dupC
c.106+4962dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45410432
chr21:45410478 G
G
 C
C
 259 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(256): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 259 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
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
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+5005G>C
c.106+5005G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410478
chr21:45410489 G
G
 A
A
 259 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(256): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 259 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
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
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+5016G>A
c.106+5016G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410489
chr21:45410501 G
G
 A
A
 1 a0010c0014t0001g0279
a0010c0014t0001g0279
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.106+5028G>A
c.106+5028G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410501
chr21:45410534 A
A
 G
G
 255 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(252): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 255 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(252): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
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
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+5061A>G
c.106+5061A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410534
chr21:45410721 G
G
 A
A
 1 a0001c0037t0001g0062
a0001c0037t0001g0062
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.106+5248G>A
c.106+5248G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410721
chr21:45410847 G
G
 T
T
 112 a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0099
others(109): Show 
a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0287
a0001c0004t0001g0026
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0007t0002g0208
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 112 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(109): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp1
NA18961.hp2
NA18975.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19070.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+5374G>T
c.106+5374G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410847
chr21:45410857 G
G
 A
A
 1 a0001c0017t0003g0205
a0001c0017t0003g0205
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.106+5384G>A
c.106+5384G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410857
chr21:45410958 C
C
 A
A
 110 a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
others(107): Show 
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0287
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0007t0002g0208
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 110 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(107): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp1
NA18961.hp2
NA18975.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19070.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+5485C>A
c.106+5485C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45410958
chr21:45411072 C
C
 T
T
 1 a0003c0010t0002g0172
a0003c0010t0002g0172
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.106+5599C>T
c.106+5599C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411072
chr21:45411209 G
G
 A
A
 1 a0001c0062t0002g0097
a0001c0062t0002g0097
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.106+5736G>A
c.106+5736G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411209
chr21:45411397 C
C
 G
G
 103 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0142
others(100): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0007c0031t0002g0160
a0007c0034t0001g0141
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0017c0043t0002g0015
a0018c0095t0001g0146
a0021c0086t0002g0176
 103 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(100): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+5924C>G
c.106+5924C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411397
chr21:45411416 C
C
 A
A
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.106+5943C>A
c.106+5943C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411416
chr21:45411584 C
C
 T
T
 2 a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0054
a0003c0009t0001g0171
 2 NA18969.hp1
NA19007.hp2
NA18969.hp1
NA19007.hp2
 intron_variant MODIFIER c.106+6111C>T
c.106+6111C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411584
chr21:45411640 G
G
 A
A
 1 a0001c0004t0001g0022
a0001c0004t0001g0022
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.106+6167G>A
c.106+6167G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411640
chr21:45411643 G
G
 A
A
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.106+6170G>A
c.106+6170G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411643
chr21:45411644 C
C
 T
T
 4 a0001c0001t0001g0241
a0001c0003t0001g0261
a0001c0005t0002g0239
others(1): Show 
a0001c0001t0001g0241
a0001c0003t0001g0261
a0001c0005t0002g0239
a0001c0008t0002g0240
 4 HG00639.hp1
HG01993.hp2
HG02273.hp2
others(1): Show 
HG00639.hp1
HG01993.hp2
HG02273.hp2
HG02602.hp1
 intron_variant MODIFIER c.106+6171C>T
c.106+6171C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411644
chr21:45411731 T
T
 TCACCCCA
others(3): Show 
TCACCCCAGCC
 1 a0001c0035t0001g0073
a0001c0035t0001g0073
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.106+6259_106+6268d
others(12): Show 
c.106+6259_106+6268dupCACCCCAGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45411731
chr21:45411751 G
G
 A
A
 1 a0001c0004t0001g0222
a0001c0004t0001g0222
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.106+6278G>A
c.106+6278G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411751
chr21:45411759 C
C
 CG
CG
 23 a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0246
others(20): Show 
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0002g0278
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0003g0143
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0005t0002g0280
a0001c0007t0002g0161
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0093t0001g0251
a0003c0010t0002g0068
a0003c0047t0001g0069
a0005c0036t0001g0245
a0012c0065t0002g0096
 23 HG00609.hp2
HG00621.hp1
HG00621.hp2
others(20): Show 
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG01070.hp1
HG01496.hp2
HG02004.hp1
HG02004.hp2
HG02083.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02683.hp1
HG03927.hp1
HG03942.hp1
HG04228.hp1
NA18949.hp2
NA18953.hp2
NA18959.hp2
NA19002.hp1
NA19002.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
 intron_variant MODIFIER c.106+6292dupG
c.106+6292dupG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45411759
chr21:45411759 C
C
 CGG
CGG
 12 a0001c0004t0001g0013
a0001c0004t0001g0271
a0001c0004t0001g0290
others(9): Show 
a0001c0004t0001g0013
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0005t0007g0262
a0001c0006t0003g0215
a0001c0006t0003g0291
a0001c0008t0002g0272
a0001c0025t0002g0164
a0001c0032t0001g0162
a0003c0009t0001g0054
a0004c0023t0002g0163
a0021c0086t0002g0176
 12 HG00423.hp1
HG00438.hp1
HG00544.hp2
others(9): Show 
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG01192.hp1
HG01891.hp2
HG01978.hp1
HG02080.hp2
HG04115.hp1
NA18954.hp2
NA19007.hp2
NA19070.hp1
NA20300.hp1
 intron_variant MODIFIER c.106+6291_106+6292d
others(4): Show 
c.106+6291_106+6292dupGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45411759
chr21:45411759 C
C
 CGGG
CGGG
 21 a0001c0001t0001g0187
a0001c0001t0001g0258
a0001c0001t0001g0273
others(18): Show 
a0001c0001t0001g0187
a0001c0001t0001g0258
a0001c0001t0001g0273
a0001c0002t0002g0283
a0001c0003t0008g0166
a0001c0004t0001g0274
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0259
a0001c0017t0002g0179
a0001c0033t0002g0169
a0001c0035t0001g0073
a0003c0009t0001g0167
a0003c0009t0001g0247
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0005c0036t0001g0292
a0005c0058t0001g0165
a0010c0014t0001g0275
 21 HG00558.hp2
HG00609.hp1
HG00733.hp1
others(18): Show 
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG01361.hp1
HG01943.hp2
HG02155.hp2
HG02165.hp2
NA18952.hp2
NA18964.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp2
NA18999.hp1
NA19007.hp1
NA19010.hp2
NA19057.hp1
NA19057.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+6290_106+6292d
others(5): Show 
c.106+6290_106+6292dupGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45411759
chr21:45411759 C
C
 CGGGGGGG
others(6): Show 
CGGGGGGGGGGGGG
 1 a0001c0002t0002g0094
a0001c0002t0002g0094
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.106+6292_106+6293i
others(15): Show 
c.106+6292_106+6293insGGGGGGGGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45411759
chr21:45411759 C
C
 T
T
 1 a0001c0019t0003g0170
a0001c0019t0003g0170
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+6286C>T
c.106+6286C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411759
chr21:45411765 GT
GT
 G
G
 3 a0001c0001t0001g0052
a0001c0004t0016g0051
a0018c0095t0001g0146
a0001c0001t0001g0052
a0001c0004t0016g0051
a0018c0095t0001g0146
 3 HG02486.hp1
NA20300.hp2
NA21309.hp1
HG02486.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+6293delT
c.106+6293delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411765
chr21:45411766 T
T
 G
G
 99 a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0149
others(96): Show 
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0017c0043t0002g0015
a0021c0086t0002g0176
 99 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(96): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.106+6293T>G
c.106+6293T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411766
chr21:45411766 TG
TG
 T
T
 35 a0001c0001t0001g0031
a0001c0001t0001g0277
a0001c0001t0004g0223
others(32): Show 
a0001c0001t0001g0031
a0001c0001t0001g0277
a0001c0001t0004g0223
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0221
a0001c0004t0001g0018
a0001c0004t0001g0064
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0019t0003g0065
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0079t0001g0042
a0002c0012t0004g0040
a0002c0067t0001g0041
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0003g0219
a0008c0101t0005g0027
a0015c0029t0003g0226
a0015c0029t0003g0227
a0022c0068t0010g0004
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
 35 HG00099.hp2
HG01106.hp2
HG01515.hp1
others(32): Show 
HG00099.hp2
HG01106.hp2
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02735.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
NA18522.hp2
NA18945.hp1
NA19240.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+6303delG
c.106+6303delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45411766
chr21:45411776 GCA
GCA
 G
G
 3 a0001c0003t0001g0145
a0001c0007t0002g0185
a0001c0011t0001g0050
a0001c0003t0001g0145
a0001c0007t0002g0185
a0001c0011t0001g0050
 3 HG01167.hp2
HG02129.hp1
HG03579.hp2
HG01167.hp2
HG02129.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+6304_106+6305d
others(4): Show 
c.106+6304_106+6305delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411776
chr21:45411777 C
C
 G
G
 93 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0142
others(90): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0003t0001g0153
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0017c0043t0002g0015
a0018c0095t0001g0146
a0021c0086t0002g0176
 93 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(90): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02486.hp1
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+6304C>G
c.106+6304C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411777
chr21:45411778 A
A
 G
G
 196 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
others(193): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 196 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(193): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+6305A>G
c.106+6305A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411778
chr21:45411882 C
C
 G
G
 2 a0001c0054t0002g0201
a0001c0074t0004g0200
a0001c0054t0002g0201
a0001c0074t0004g0200
 2 HG01243.hp1
HG03540.hp1
HG01243.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+6409C>G
c.106+6409C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411882
chr21:45411990 C
C
 T
T
 7 a0001c0001t0001g0266
a0001c0003t0001g0254
a0001c0006t0003g0215
others(4): Show 
a0001c0001t0001g0266
a0001c0003t0001g0254
a0001c0006t0003g0215
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0270
a0001c0008t0002g0272
 7 HG01192.hp1
HG01257.hp1
HG01978.hp1
others(4): Show 
HG01192.hp1
HG01257.hp1
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02273.hp1
NA20300.hp1
 intron_variant MODIFIER c.106+6517C>T
c.106+6517C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45411990
chr21:45412007 G
G
 A
A
 103 a0001c0001t0001g0025
a0001c0001t0001g0099
a0001c0001t0001g0103
others(100): Show 
a0001c0001t0001g0025
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0287
a0001c0004t0001g0026
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0007t0002g0208
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 103 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(100): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18954.hp1
NA18961.hp1
NA18961.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19010.hp1
NA19043.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+6534G>A
c.106+6534G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412007
chr21:45412018 C
C
 T
T
 1 a0001c0001t0001g0228
a0001c0001t0001g0228
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.106+6545C>T
c.106+6545C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412018
chr21:45412051 C
C
 T
T
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.106+6578C>T
c.106+6578C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412051
chr21:45412086 C
C
 T
T
 17 a0001c0001t0001g0033
a0001c0002t0001g0095
a0001c0003t0001g0005
others(14): Show 
a0001c0001t0001g0033
a0001c0002t0001g0095
a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0004c0057t0002g0035
a0004c0091t0001g0056
a0011c0104t0002g0003
a0012c0088t0002g0006
a0024c0066t0010g0066
 17 HG00280.hp2
HG01074.hp2
HG01081.hp1
others(14): Show 
HG00280.hp2
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02109.hp1
HG02451.hp1
HG02451.hp2
HG02717.hp2
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03471.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp2
 intron_variant MODIFIER c.106+6613C>T
c.106+6613C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412086
chr21:45412121 C
C
 T
T
 2 a0015c0029t0003g0226
a0015c0029t0003g0227
a0015c0029t0003g0226
a0015c0029t0003g0227
 2 HG01515.hp1
HG01517.hp1
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.106+6648C>T
c.106+6648C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412121
chr21:45412235 TTC
TTC
 T
T
 93 a0001c0001t0001g0025
a0001c0001t0001g0103
a0001c0001t0001g0113
others(90): Show 
a0001c0001t0001g0025
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0287
a0001c0004t0001g0026
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0006t0003g0079
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0007t0002g0078
a0001c0007t0002g0208
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0100
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0058
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0031t0002g0123
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0011c0040t0001g0076
a0016c0042t0001g0118
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 93 HG00099.hp1
HG00140.hp2
HG00280.hp1
others(90): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18954.hp1
NA18961.hp1
NA18961.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19005.hp1
NA19010.hp1
NA19043.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.106+6764_106+6765d
others(4): Show 
c.106+6764_106+6765delCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45412235
chr21:45412236 TC
TC
 T
T
 6 a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0102t0004g0196
others(3): Show 
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 6 HG02258.hp2
HG02559.hp1
HG02622.hp2
others(3): Show 
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02895.hp1
HG03486.hp2
 intron_variant MODIFIER c.106+6764delC
c.106+6764delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412236
chr21:45412237 C
C
 CTT
CTT
 95 a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0142
others(92): Show 
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0178
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0071
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0019t0003g0170
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0007c0031t0002g0160
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0017c0043t0002g0015
a0018c0095t0001g0146
a0021c0086t0002g0176
 95 HG00423.hp1
HG00423.hp2
HG00438.hp1
others(92): Show 
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02486.hp1
HG02559.hp2
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+6779_106+6780d
others(4): Show 
c.106+6779_106+6780dupTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45412237
chr21:45412297 C
C
 T
T
 2 a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0013t0014g0210
a0001c0017t0003g0205
 2 HG00280.hp1
HG00642.hp2
HG00280.hp1
HG00642.hp2
 intron_variant MODIFIER c.106+6824C>T
c.106+6824C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412297
chr21:45412394 G
G
 A
A
 2 a0001c0007t0002g0078
a0032c0052t0002g0077
a0001c0007t0002g0078
a0032c0052t0002g0077
 2 HG00140.hp2
HG04204.hp2
HG00140.hp2
HG04204.hp2
 intron_variant MODIFIER c.106+6921G>A
c.106+6921G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412394
chr21:45412403 AT
AT
 A
A
 7 a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0005t0007g0263
others(4): Show 
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0005t0007g0263
a0001c0032t0001g0147
a0001c0033t0002g0100
a0001c0074t0004g0200
a0015c0029t0003g0226
 7 HG01515.hp1
HG02155.hp2
HG02165.hp2
others(4): Show 
HG01515.hp1
HG02155.hp2
HG02165.hp2
HG03540.hp1
NA18612.hp2
NA18954.hp1
NA18977.hp2
 intron_variant MODIFIER c.106+6946delT
c.106+6946delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45412403
chr21:45412430 C
C
 T
T
 35 a0001c0001t0001g0191
a0001c0001t0001g0228
a0001c0001t0001g0234
others(32): Show 
a0001c0001t0001g0191
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0250
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0249
a0001c0003t0001g0261
a0001c0005t0002g0217
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0006g0218
a0001c0007t0002g0185
a0001c0008t0002g0240
a0001c0017t0003g0284
a0001c0024t0001g0229
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0064t0001g0061
a0002c0012t0004g0058
a0002c0083t0001g0237
a0003c0045t0006g0242
a0006c0028t0003g0059
a0006c0028t0003g0230
a0007c0034t0001g0282
a0007c0076t0002g0281
a0031c0092t0011g0190
 35 HG00140.hp1
HG00408.hp1
HG00558.hp1
others(32): Show 
HG00140.hp1
HG00408.hp1
HG00558.hp1
HG00639.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01993.hp2
HG02040.hp1
HG02080.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp2
HG02735.hp2
HG02818.hp2
HG03239.hp1
HG03239.hp2
HG03654.hp2
HG03688.hp1
HG03710.hp2
NA18612.hp2
NA18747.hp1
NA18949.hp1
NA18964.hp1
NA18983.hp1
NA18990.hp2
NA18999.hp2
NA19012.hp2
NA19060.hp2
NA20905.hp1
 intron_variant MODIFIER c.106+6957C>T
c.106+6957C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412430
chr21:45412599 G
G
 A
A
 1 a0013c0102t0004g0196
a0013c0102t0004g0196
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+7126G>A
c.106+7126G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412599
chr21:45412603 T
T
 C
C
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.106+7130T>C
c.106+7130T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412603
chr21:45412654 A
A
 G
G
 1 a0029c0071t0002g0134
a0029c0071t0002g0134
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.106+7181A>G
c.106+7181A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45412654
chr21:45413000 G
G
 C
C
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.106+7527G>C
c.106+7527G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413000
chr21:45413081 T
T
 C
C
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.106+7608T>C
c.106+7608T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413081
chr21:45413123 G
G
 C
C
 8 a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
others(5): Show 
a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0011c0104t0002g0003
a0012c0088t0002g0006
 8 HG01074.hp2
HG01081.hp1
HG02055.hp2
others(5): Show 
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02451.hp2
HG02717.hp2
HG02965.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.106+7650G>C
c.106+7650G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413123
chr21:45413166 G
G
 T
T
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+7693G>T
c.106+7693G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413166
chr21:45413172 C
C
 T
T
 1 a0006c0028t0003g0059
a0006c0028t0003g0059
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.106+7699C>T
c.106+7699C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413172
chr21:45413199 G
G
 A
A
 3 a0001c0005t0007g0262
a0001c0005t0007g0263
a0005c0058t0001g0165
a0001c0005t0007g0262
a0001c0005t0007g0263
a0005c0058t0001g0165
 3 HG02165.hp2
NA18954.hp2
NA19057.hp1
HG02165.hp2
NA18954.hp2
NA19057.hp1
 intron_variant MODIFIER c.106+7726G>A
c.106+7726G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413199
chr21:45413214 G
G
 A
A
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.106+7741G>A
c.106+7741G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413214
chr21:45413494 C
C
 T
T
 1 a0001c0002t0002g0238
a0001c0002t0002g0238
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.106+8021C>T
c.106+8021C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413494
chr21:45413587 GC
GC
 G
G
 4 a0001c0004t0001g0213
a0011c0040t0001g0076
a0019c0096t0015g0045
others(1): Show 
a0001c0004t0001g0213
a0011c0040t0001g0076
a0019c0096t0015g0045
a0020c0094t0011g0075
 4 HG02280.hp1
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG03540.hp2
 intron_variant MODIFIER c.106+8116delC
c.106+8116delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45413587
chr21:45413685 T
T
 C
C
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+8212T>C
c.106+8212T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413685
chr21:45413774 TGCCTGG
TGCCTGG
 T
T
 221 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
others(218): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 221 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(218): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
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
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+8306_106+8311d
others(8): Show 
c.106+8306_106+8311delGGGCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45413774
chr21:45413855 T
T
 C
C
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.106+8382T>C
c.106+8382T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45413855
chr21:45414123 C
C
 T
T
 4 a0001c0001t0001g0192
a0001c0003t0001g0145
a0001c0003t0001g0193
others(1): Show 
a0001c0001t0001g0192
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0007t0002g0194
 4 HG02055.hp1
HG02559.hp2
HG03195.hp2
others(1): Show 
HG02055.hp1
HG02559.hp2
HG03195.hp2
HG03579.hp2
 intron_variant MODIFIER c.106+8650C>T
c.106+8650C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414123
chr21:45414136 C
C
 G
G
 3 a0001c0002t0001g0095
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0002t0001g0095
a0001c0011t0001g0016
a0001c0011t0001g0017
 3 HG00280.hp2
HG02647.hp1
NA18522.hp2
HG00280.hp2
HG02647.hp1
NA18522.hp2
 intron_variant MODIFIER c.106+8663C>G
c.106+8663C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414136
chr21:45414175 C
C
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+8702C>T
c.106+8702C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414175
chr21:45414200 A
A
 G
G
 8 a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
others(5): Show 
a0001c0003t0001g0005
a0001c0011t0001g0009
a0001c0022t0001g0008
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0011c0104t0002g0003
a0012c0088t0002g0006
 8 HG01074.hp2
HG01081.hp1
HG02055.hp2
others(5): Show 
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02451.hp2
HG02717.hp2
HG02965.hp2
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.106+8727A>G
c.106+8727A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414200
chr21:45414328 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.106+8855C>T
c.106+8855C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414328
chr21:45414329 G
G
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.106+8856G>A
c.106+8856G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414329
chr21:45414392 C
C
 T
T
 4 a0001c0004t0001g0255
a0001c0007t0002g0185
a0007c0034t0001g0282
others(1): Show 
a0001c0004t0001g0255
a0001c0007t0002g0185
a0007c0034t0001g0282
a0007c0076t0002g0281
 4 HG00438.hp2
HG02129.hp1
NA18964.hp1
others(1): Show 
HG00438.hp2
HG02129.hp1
NA18964.hp1
NA19060.hp2
 intron_variant MODIFIER c.106+8919C>T
c.106+8919C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414392
chr21:45414396 C
C
 G
G
 101 a0001c0001t0001g0093
a0001c0001t0001g0113
a0001c0001t0001g0120
others(98): Show 
a0001c0001t0001g0093
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0011c0040t0001g0076
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 101 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(98): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18954.hp1
NA18966.hp1
NA18975.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19064.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+8923C>G
c.106+8923C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414396
chr21:45414397 C
C
 A
A
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.106+8924C>A
c.106+8924C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414397
chr21:45414434 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+8961G>A
c.106+8961G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414434
chr21:45414580 C
C
 T
T
 4 a0001c0004t0001g0255
a0001c0007t0002g0185
a0007c0034t0001g0282
others(1): Show 
a0001c0004t0001g0255
a0001c0007t0002g0185
a0007c0034t0001g0282
a0007c0076t0002g0281
 4 HG00438.hp2
HG02129.hp1
NA18964.hp1
others(1): Show 
HG00438.hp2
HG02129.hp1
NA18964.hp1
NA19060.hp2
 intron_variant MODIFIER c.106+9107C>T
c.106+9107C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414580
chr21:45414642 C
C
 T
T
 19 a0001c0001t0001g0192
a0001c0002t0001g0095
a0001c0003t0001g0145
others(16): Show 
a0001c0001t0001g0192
a0001c0002t0001g0095
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0004t0001g0214
a0001c0007t0002g0194
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0170
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0020t0003g0156
a0004c0023t0002g0163
a0009c0016t0002g0252
a0018c0095t0001g0146
 19 HG00280.hp2
HG01891.hp2
HG02055.hp1
others(16): Show 
HG00280.hp2
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02818.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03688.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp2
NA19043.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.106+9169C>T
c.106+9169C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414642
chr21:45414708 C
C
 T
T
 4 a0001c0004t0001g0255
a0001c0007t0002g0185
a0007c0034t0001g0282
others(1): Show 
a0001c0004t0001g0255
a0001c0007t0002g0185
a0007c0034t0001g0282
a0007c0076t0002g0281
 4 HG00438.hp2
HG02129.hp1
NA18964.hp1
others(1): Show 
HG00438.hp2
HG02129.hp1
NA18964.hp1
NA19060.hp2
 intron_variant MODIFIER c.106+9235C>T
c.106+9235C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414708
chr21:45414774 G
G
 C
C
 2 a0002c0103t0001g0136
a0023c0085t0002g0106
a0002c0103t0001g0136
a0023c0085t0002g0106
 2 HG00639.hp2
HG01167.hp1
HG00639.hp2
HG01167.hp1
 intron_variant MODIFIER c.106+9301G>C
c.106+9301G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414774
chr21:45414858 A
A
 G
G
 14 a0001c0003t0001g0005
a0001c0004t0001g0255
a0001c0007t0002g0185
others(11): Show 
a0001c0003t0001g0005
a0001c0004t0001g0255
a0001c0007t0002g0185
a0001c0011t0001g0009
a0001c0022t0001g0008
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0007c0034t0001g0282
a0007c0076t0002g0281
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0020c0094t0011g0075
 14 HG00438.hp2
HG01074.hp2
HG01081.hp1
others(11): Show 
HG00438.hp2
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02129.hp1
HG02451.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02965.hp2
HG03471.hp2
NA18522.hp1
NA18964.hp1
NA19060.hp2
 intron_variant MODIFIER c.106+9385A>G
c.106+9385A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414858
chr21:45414899 A
A
 G
G
 228 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
others(225): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 228 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(225): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
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
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+9426A>G
c.106+9426A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45414899
chr21:45415197 C
C
 T
T
 1 a0009c0016t0001g0209
a0009c0016t0001g0209
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.106+9724C>T
c.106+9724C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415197
chr21:45415210 T
T
 C
C
 254 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(251): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 254 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(251): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+9737T>C
c.106+9737T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415210
chr21:45415235 T
T
 G
G
 1 a0003c0010t0002g0172
a0003c0010t0002g0172
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.106+9762T>G
c.106+9762T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415235
chr21:45415279 C
C
 T
T
 216 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
others(213): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0012c0065t0002g0096
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 216 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(213): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+9806C>T
c.106+9806C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415279
chr21:45415389 A
A
 C
C
 1 a0001c0017t0003g0205
a0001c0017t0003g0205
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.106+9916A>C
c.106+9916A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415389
chr21:45415420 G
G
 C
C
 51 a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
others(48): Show 
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0283
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0280
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0093t0001g0251
a0003c0009t0001g0247
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0021c0086t0002g0176
 51 HG00423.hp1
HG00544.hp2
HG00558.hp2
others(48): Show 
HG00423.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01074.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp2
HG02273.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+9947G>C
c.106+9947G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415420
chr21:45415443 C
C
 T
T
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.106+9970C>T
c.106+9970C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415443
chr21:45415446 A
A
 G
G
 217 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
others(214): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0012c0065t0002g0096
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 217 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(214): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+9973A>G
c.106+9973A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415446
chr21:45415465 C
C
 T
T
 1 a0001c0004t0001g0018
a0001c0004t0001g0018
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.106+9992C>T
c.106+9992C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415465
chr21:45415516 C
C
 T
T
 1 a0017c0043t0002g0015
a0017c0043t0002g0015
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.106+10043C>T
c.106+10043C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415516
chr21:45415517 G
G
 A
A
 2 a0001c0001t0001g0031
a0004c0099t0003g0030
a0001c0001t0001g0031
a0004c0099t0003g0030
 2 HG02486.hp2
HG02922.hp1
HG02486.hp2
HG02922.hp1
 intron_variant MODIFIER c.106+10044G>A
c.106+10044G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415517
chr21:45415547 C
C
 T
T
 1 a0001c0003t0001g0254
a0001c0003t0001g0254
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.106+10074C>T
c.106+10074C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415547
chr21:45415601 C
C
 T
T
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.106+10128C>T
c.106+10128C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415601
chr21:45415755 G
G
 A
A
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.106+10282G>A
c.106+10282G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415755
chr21:45415784 G
G
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.106+10311G>A
c.106+10311G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415784
chr21:45415787 G
G
 A
A
 1 a0002c0012t0004g0049
a0002c0012t0004g0049
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+10314G>A
c.106+10314G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415787
chr21:45415874 C
C
 T
T
 21 a0001c0002t0001g0080
a0001c0002t0003g0143
a0001c0003t0001g0153
others(18): Show 
a0001c0002t0001g0080
a0001c0002t0003g0143
a0001c0003t0001g0153
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0081t0003g0154
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0005c0058t0001g0165
a0012c0065t0002g0096
 21 HG00544.hp1
HG01243.hp1
HG02165.hp2
others(18): Show 
HG00544.hp1
HG01243.hp1
HG02165.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19057.hp1
NA19064.hp2
NA19070.hp1
NA20905.hp2
 intron_variant MODIFIER c.106+10401C>T
c.106+10401C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415874
chr21:45415951 T
T
 C
C
 3 a0001c0002t0002g0107
a0001c0004t0001g0026
a0001c0063t0001g0144
a0001c0002t0002g0107
a0001c0004t0001g0026
a0001c0063t0001g0144
 3 HG00735.hp1
HG02615.hp2
HG06807.hp1
HG00735.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.106+10478T>C
c.106+10478T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415951
chr21:45415981 C
C
 T
T
 169 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
others(166): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0247
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 169 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(166): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+10508C>T
c.106+10508C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45415981
chr21:45416165 G
G
 T
T
 1 a0001c0017t0003g0205
a0001c0017t0003g0205
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.106+10692G>T
c.106+10692G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416165
chr21:45416313 C
C
 T
T
 203 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
others(200): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 203 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(200): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+10840C>T
c.106+10840C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416313
chr21:45416315 G
G
 A
A
 10 a0001c0003t0001g0005
a0001c0022t0001g0008
a0001c0074t0004g0200
others(7): Show 
a0001c0003t0001g0005
a0001c0022t0001g0008
a0001c0074t0004g0200
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0020c0094t0011g0075
 10 HG01074.hp2
HG01081.hp1
HG02055.hp2
others(7): Show 
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02451.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03471.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.106+10842G>A
c.106+10842G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416315
chr21:45416433 C
C
 T
T
 1 a0001c0004t0001g0225
a0001c0004t0001g0225
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.106+10960C>T
c.106+10960C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416433
chr21:45416516 A
A
 G
G
 1 a0001c0002t0002g0133
a0001c0002t0002g0133
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.106+11043A>G
c.106+11043A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416516
chr21:45416615 G
G
 A
A
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+11142G>A
c.106+11142G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416615
chr21:45416626 C
C
 A
A
 4 a0011c0040t0001g0046
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0011c0040t0001g0046
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02258.hp2
HG02559.hp1
HG02630.hp1
others(1): Show 
HG02258.hp2
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+11153C>A
c.106+11153C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416626
chr21:45416637 G
G
 A
A
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.106+11164G>A
c.106+11164G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416637
chr21:45416683 G
G
 T
T
 206 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
others(203): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 206 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(203): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+11210G>T
c.106+11210G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416683
chr21:45416747 T
T
 G
G
 107 a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
others(104): Show 
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 107 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(104): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18954.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+11274T>G
c.106+11274T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416747
chr21:45416760 G
G
 T
T
 38 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0003g0143
others(35): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0019t0003g0170
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0058t0001g0165
a0009c0016t0002g0252
a0012c0065t0002g0096
a0018c0095t0001g0146
 38 HG00544.hp1
HG01243.hp1
HG01891.hp2
others(35): Show 
HG00544.hp1
HG01243.hp1
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02165.hp2
HG02559.hp2
HG02615.hp2
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19064.hp2
NA19070.hp1
NA20129.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+11287G>T
c.106+11287G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416760
chr21:45416812 C
C
 T
T
 3 a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
 3 HG02055.hp1
HG02559.hp2
HG03195.hp2
HG02055.hp1
HG02559.hp2
HG03195.hp2
 intron_variant MODIFIER c.106+11339C>T
c.106+11339C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416812
chr21:45416816 T
T
 C
C
 210 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
others(207): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 210 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+11343T>C
c.106+11343T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416816
chr21:45416839 C
C
 CCTCGTTC
others(8): Show 
CCTCGTTCTGCATATG
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+11381_106+1139
others(19): Show 
c.106+11381_106+11395dupGCTCGTTCTGCATAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45416839
chr21:45416854 G
G
 GCTCGTTC
others(8): Show 
GCTCGTTCTGCATATC
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.106+11394_106+1140
others(19): Show 
c.106+11394_106+11408dupATCCTCGTTCTGCAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45416854
chr21:45416888 G
G
 A
A
 1 a0001c0001t0001g0273
a0001c0001t0001g0273
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.106+11415G>A
c.106+11415G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416888
chr21:45416965 G
G
 C
C
 2 a0001c0019t0003g0139
a0004c0023t0002g0138
a0001c0019t0003g0139
a0004c0023t0002g0138
 2 HG02723.hp1
HG03225.hp1
HG02723.hp1
HG03225.hp1
 intron_variant MODIFIER c.106+11492G>C
c.106+11492G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45416965
chr21:45417227 T
T
 G
G
 4 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0004t0001g0255
others(1): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0004t0001g0255
a0001c0007t0002g0185
 4 HG00438.hp2
HG01261.hp2
HG02129.hp1
others(1): Show 
HG00438.hp2
HG01261.hp2
HG02129.hp1
HG03130.hp2
 intron_variant MODIFIER c.106+11754T>G
c.106+11754T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417227
chr21:45417236 C
C
 T
T
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+11763C>T
c.106+11763C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417236
chr21:45417280 G
G
 A
A
 50 a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
others(47): Show 
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0283
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0280
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0061t0001g0257
a0001c0093t0001g0251
a0003c0009t0001g0247
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0021c0086t0002g0176
 50 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(47): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01070.hp1
HG01074.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02273.hp1
HG03927.hp1
HG04115.hp1
HG04184.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp2
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+11807G>A
c.106+11807G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417280
chr21:45417327 G
G
 C
C
 1 a0003c0010t0002g0172
a0003c0010t0002g0172
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.106+11854G>C
c.106+11854G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417327
chr21:45417361 T
T
 G
G
 4 a0001c0001t0001g0192
a0001c0003t0001g0145
a0001c0003t0001g0193
others(1): Show 
a0001c0001t0001g0192
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0007t0002g0194
 4 HG02055.hp1
HG02559.hp2
HG03195.hp2
others(1): Show 
HG02055.hp1
HG02559.hp2
HG03195.hp2
HG03579.hp2
 intron_variant MODIFIER c.106+11888T>G
c.106+11888T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417361
chr21:45417424 G
G
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+11951G>A
c.106+11951G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417424
chr21:45417502 G
G
 A
A
 2 a0001c0004t0001g0026
a0001c0063t0001g0144
a0001c0004t0001g0026
a0001c0063t0001g0144
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.106+12029G>A
c.106+12029G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417502
chr21:45417517 C
C
 T
T
 9 a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
others(6): Show 
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0004c0023t0002g0138
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 9 HG02258.hp1
HG02630.hp2
HG02723.hp1
others(6): Show 
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+12044C>T
c.106+12044C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417517
chr21:45417518 G
G
 A
A
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.106+12045G>A
c.106+12045G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417518
chr21:45417640 T
T
 TC
TC
 106 a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
others(103): Show 
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 106 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(103): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18954.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+12169dupC
c.106+12169dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45417640
chr21:45417675 G
G
 A
A
 157 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0113
others(154): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0269
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0026
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 157 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(154): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02055.hp1
HG02080.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+12202G>A
c.106+12202G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417675
chr21:45417794 A
A
 G
G
 215 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
others(212): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0012c0065t0002g0096
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 215 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(212): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+12321A>G
c.106+12321A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417794
chr21:45417844 G
G
 C
C
 10 a0001c0003t0001g0005
a0001c0022t0001g0008
a0001c0074t0004g0200
others(7): Show 
a0001c0003t0001g0005
a0001c0022t0001g0008
a0001c0074t0004g0200
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0020c0094t0011g0075
 10 HG01074.hp2
HG01081.hp1
HG02055.hp2
others(7): Show 
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02451.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03471.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.106+12371G>C
c.106+12371G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417844
chr21:45417916 G
G
 A
A
 11 a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0002c0021t0002g0186
a0004c0091t0001g0056
 11 HG01261.hp2
HG01891.hp1
HG02451.hp1
others(8): Show 
HG01261.hp2
HG01891.hp1
HG02451.hp1
HG02818.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+12443G>A
c.106+12443G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417916
chr21:45417963 A
A
 C
C
 218 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
others(215): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0012c0065t0002g0096
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 218 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(215): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+12490A>C
c.106+12490A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45417963
chr21:45418007 C
C
 T
T
 1 a0001c0081t0003g0154
a0001c0081t0003g0154
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.106+12534C>T
c.106+12534C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418007
chr21:45418015 C
C
 T
T
 41 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0001g0095
others(38): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0058t0001g0165
a0009c0016t0002g0252
a0012c0065t0002g0096
a0018c0095t0001g0146
 41 HG00280.hp2
HG00544.hp1
HG01243.hp1
others(38): Show 
HG00280.hp2
HG00544.hp1
HG01243.hp1
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02165.hp2
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02818.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19064.hp2
NA19070.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+12542C>T
c.106+12542C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418015
chr21:45418213 C
C
 T
T
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.106+12740C>T
c.106+12740C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418213
chr21:45418223 C
C
 T
T
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+12750C>T
c.106+12750C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418223
chr21:45418278 G
G
 A
A
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.106+12805G>A
c.106+12805G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418278
chr21:45418333 TC
TC
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+12864delC
c.106+12864delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418333
chr21:45418401 G
G
 A
A
 1 a0001c0002t0002g0283
a0001c0002t0002g0283
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.106+12928G>A
c.106+12928G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418401
chr21:45418476 A
A
 T
T
 1 a0001c0002t0002g0236
a0001c0002t0002g0236
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.106+13003A>T
c.106+13003A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418476
chr21:45418553 C
C
 T
T
 4 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0073t0003g0034
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0073t0003g0034
a0004c0057t0002g0035
 4 HG02109.hp1
HG02145.hp2
HG03098.hp2
others(1): Show 
HG02109.hp1
HG02145.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.106+13080C>T
c.106+13080C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418553
chr21:45418566 G
G
 A
A
 117 a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
others(114): Show 
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0062t0002g0097
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0026c0044t0001g0037
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 117 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(114): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18949.hp2
NA18954.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+13093G>A
c.106+13093G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418566
chr21:45418663 T
T
 TCTTCCTG
others(52): Show 
TCTTCCTGGGGTCTCAGGGAAGCGGCACCTCCTCAGGGGCCTCCCAGCCA
CCTCACGTCA
 111 a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
others(108): Show 
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0089t0001g0119
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0091t0001g0056
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 111 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(108): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18954.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18998.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19060.hp2
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+13209_106+1326
others(63): Show 
c.106+13209_106+13267dupAAGCGGCACCTCCTCAGGGGCCTCCC
AGCCACCTCACGTCACTTCCTGGGGTCTCAGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418663
chr21:45418663 T
T
 TCTTCCTG
others(111): Show 
TCTTCCTGGGGTCTCAGGGAAGCGGCACCTCCTCAGGGGCCTCCCAGCCA
CCTCACGTCACTTCCTGGGGTCTCAGGGAAGCGGCACCTCCTCAGGGGCC
TCCCAGCCACCTCACGTCA
 5 a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0002g0278
 5 HG01261.hp2
HG02818.hp2
HG03130.hp2
others(2): Show 
HG01261.hp2
HG02818.hp2
HG03130.hp2
HG03453.hp2
NA19064.hp1
 intron_variant MODIFIER c.106+13267_106+1326
others(122): Show 
c.106+13267_106+13268insAAGCGGCACCTCCTCAGGGGCCTCCC
AGCCACCTCACGTCACTTCCTGGGGTCTCAGGGAAGCGGCACCTCCTCAG
GGGCCTCCCAGCCACCTCACGTCACTTCCTGGGGTCTCAGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418663
chr21:45418682 A
A
 AAGCGGCA
others(52): Show 
AAGCGGCACCTCCTCAGGGGCCTCCCAGCCACCTCACGTCACTTCCTGGG
GTCTCAGGGC
 36 a0001c0001t0004g0223
a0001c0003t0001g0005
a0001c0004t0001g0018
others(33): Show 
a0001c0001t0004g0223
a0001c0003t0001g0005
a0001c0004t0001g0018
a0001c0004t0001g0064
a0001c0004t0001g0090
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0022t0001g0008
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0084t0002g0212
a0004c0100t0001g0039
a0005c0060t0001g0063
a0008c0101t0005g0027
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 36 HG01074.hp2
HG01081.hp1
HG01496.hp1
others(33): Show 
HG01074.hp2
HG01081.hp1
HG01496.hp1
HG01981.hp2
HG02055.hp2
HG02071.hp2
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
NA18522.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+13234_106+1329
others(63): Show 
c.106+13234_106+13292dupCAGCCACCTCACGTCACTTCCTGGGG
TCTCAGGGCAGCGGCACCTCCTCAGGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418682
chr21:45418682 AAGCGGCA
others(52): Show 
AAGCGGCACCTCCTCAGGGGCCTCCCAGCCACCTCACGTCACTTCCTGGG
GTCTCAGGGC
 A
A
 1 a0003c0010t0002g0068
a0003c0010t0002g0068
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.106+13234_106+1329
others(63): Show 
c.106+13234_106+13292delCAGCCACCTCACGTCACTTCCTGGGG
TCTCAGGGCAGCGGCACCTCCTCAGGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418682
chr21:45418729 G
G
 GGGGTCTC
others(51): Show 
GGGGTCTCAGGGAAGCGGCACCTCCTCAGGGGCCTCCCAGCCACCTCACG
TCACTTCCT
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.106+13267_106+1326
others(62): Show 
c.106+13267_106+13268insAAGCGGCACCTCCTCAGGGGCCTCCC
AGCCACCTCACGTCACTTCCTGGGTCTCAGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418729
chr21:45418741 C
C
 A
A
 109 a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
others(106): Show 
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0062t0002g0097
a0001c0089t0001g0119
a0002c0012t0004g0199
a0002c0021t0002g0001
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 109 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(106): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG02040.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18954.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+13268C>A
c.106+13268C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418741
chr21:45418741 C
C
 CAGCGGCA
others(52): Show 
CAGCGGCACCTCCTCAGGGGCCTCCCAGCCACCTCACGTCACTTCCTGGG
GTCTCAGGGA
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.106+13292_106+1329
others(63): Show 
c.106+13292_106+13293insCAGCCACCTCACGTCACTTCCTGGGG
TCTCAGGGAAGCGGCACCTCCTCAGGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418741
chr21:45418744 C
C
 CGGCACCT
others(52): Show 
CGGCACCTCCTCAGGGGCCTCCCAGCCACCTCACGTCACTTCCTGGGGTC
TCAGGGCAGA
 2 a0001c0001t0001g0031
a0004c0099t0003g0030
a0001c0001t0001g0031
a0004c0099t0003g0030
 2 HG02486.hp2
HG02922.hp1
HG02486.hp2
HG02922.hp1
 intron_variant MODIFIER c.106+13292_106+1329
others(63): Show 
c.106+13292_106+13293insCAGCCACCTCACGTCACTTCCTGGGG
TCTCAGGGCAGAGGCACCTCCTCAGGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418744
chr21:45418786 G
G
 A
A
 180 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0113
others(177): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0269
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 180 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(177): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+13313G>A
c.106+13313G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418786
chr21:45418788 T
T
 C
C
 243 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0093
others(240): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 243 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(240): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+13315T>C
c.106+13315T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418788
chr21:45418833 C
C
 G
G
 1 a0008c0018t0005g0132
a0008c0018t0005g0132
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.106+13360C>G
c.106+13360C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45418833
chr21:45418885 GAACC
GAACC
 G
G
 3 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
 3 HG02647.hp1
HG02965.hp2
NA18522.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.106+13414_106+1341
others(8): Show 
c.106+13414_106+13417delACCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45418885
chr21:45419035 G
G
 A
A
 11 a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0002c0021t0002g0186
a0004c0091t0001g0056
 11 HG01261.hp2
HG01891.hp1
HG02451.hp1
others(8): Show 
HG01261.hp2
HG01891.hp1
HG02451.hp1
HG02818.hp2
HG02970.hp1
HG03041.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+13562G>A
c.106+13562G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419035
chr21:45419160 T
T
 G
G
 22 a0001c0002t0001g0080
a0001c0002t0003g0143
a0001c0003t0001g0153
others(19): Show 
a0001c0002t0001g0080
a0001c0002t0003g0143
a0001c0003t0001g0153
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0081t0003g0154
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0005c0058t0001g0165
a0012c0065t0002g0096
 22 HG00544.hp1
HG01243.hp1
HG02165.hp2
others(19): Show 
HG00544.hp1
HG01243.hp1
HG02165.hp2
HG02683.hp1
HG03942.hp1
HG04115.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19057.hp1
NA19064.hp2
NA19070.hp1
NA20905.hp2
 intron_variant MODIFIER c.106+13687T>G
c.106+13687T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419160
chr21:45419198 C
C
 T
T
 37 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0003g0143
others(34): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0003g0143
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0063t0001g0144
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0020t0003g0156
a0002c0021t0002g0148
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0023t0002g0163
a0005c0058t0001g0165
a0009c0016t0002g0252
a0012c0065t0002g0096
a0018c0095t0001g0146
 37 HG00544.hp1
HG01243.hp1
HG01891.hp2
others(34): Show 
HG00544.hp1
HG01243.hp1
HG01891.hp2
HG02055.hp1
HG02145.hp1
HG02165.hp2
HG02559.hp2
HG02615.hp2
HG02683.hp1
HG02818.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03579.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18944.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp1
NA19064.hp2
NA19070.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+13725C>T
c.106+13725C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419198
chr21:45419204 C
C
 T
T
 1 a0002c0012t0004g0049
a0002c0012t0004g0049
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+13731C>T
c.106+13731C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419204
chr21:45419226 C
C
 T
T
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.106+13753C>T
c.106+13753C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419226
chr21:45419268 TGTAGTGA
others(11): Show 
TGTAGTGACGTGATGCCGG
 T
T
 1 a0001c0002t0002g0088
a0001c0002t0002g0088
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.106+13813_106+1383
others(22): Show 
c.106+13813_106+13830delGGTAGTGACGTGATGCCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45419268
chr21:45419331 A
A
 G
G
 1 a0001c0003t0001g0221
a0001c0003t0001g0221
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.106+13858A>G
c.106+13858A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419331
chr21:45419353 G
G
 A
A
 1 a0008c0018t0005g0130
a0008c0018t0005g0130
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.106+13880G>A
c.106+13880G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419353
chr21:45419361 G
G
 A
A
 1 a0001c0004t0001g0213
a0001c0004t0001g0213
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.106+13888G>A
c.106+13888G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419361
chr21:45419450 G
G
 A
A
 1 a0001c0054t0002g0201
a0001c0054t0002g0201
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.106+13977G>A
c.106+13977G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419450
chr21:45419460 T
T
 C
C
 260 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(257): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 260 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(257): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+13987T>C
c.106+13987T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419460
chr21:45419629 C
C
 T
T
 1 a0001c0003t0001g0043
a0001c0003t0001g0043
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.106+14156C>T
c.106+14156C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419629
chr21:45419655 G
G
 A
A
 13 a0001c0003t0001g0005
a0001c0004t0001g0255
a0001c0007t0002g0185
others(10): Show 
a0001c0003t0001g0005
a0001c0004t0001g0255
a0001c0007t0002g0185
a0001c0022t0001g0008
a0001c0074t0004g0200
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0020c0094t0011g0075
 13 HG00438.hp2
HG01074.hp2
HG01081.hp1
others(10): Show 
HG00438.hp2
HG01074.hp2
HG01081.hp1
HG02055.hp2
HG02129.hp1
HG02257.hp2
HG02451.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03471.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.106+14182G>A
c.106+14182G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419655
chr21:45419710 G
G
 T
T
 151 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
others(148): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0023
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0269
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0006t0003g0079
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0089t0001g0119
a0002c0012t0004g0040
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0045t0006g0242
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0057t0002g0035
a0004c0091t0001g0056
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0023c0085t0002g0106
a0025c0050t0002g0108
a0029c0071t0002g0134
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 151 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18954.hp1
NA18961.hp2
NA18964.hp1
NA18969.hp2
NA18975.hp2
NA18983.hp1
NA18990.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+14237G>T
c.106+14237G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419710
chr21:45419818 A
A
 T
T
 1 a0001c0001t0001g0128
a0001c0001t0001g0128
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.106+14345A>T
c.106+14345A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419818
chr21:45419937 G
G
 A
A
 1 a0001c0002t0002g0094
a0001c0002t0002g0094
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.106+14464G>A
c.106+14464G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419937
chr21:45419989 T
T
 C
C
 159 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0099
others(156): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0135
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0241
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0231
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0003g0211
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0062t0002g0097
a0001c0069t0005g0038
a0001c0089t0001g0119
a0002c0012t0004g0040
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0010t0006g0014
a0003c0046t0001g0002
a0004c0023t0002g0138
a0005c0036t0001g0245
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0013c0051t0001g0195
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0026c0044t0001g0037
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 159 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(156): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp2
HG02071.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp2
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+14516T>C
c.106+14516T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45419989
chr21:45420132 C
C
 G
G
 2 a0001c0062t0002g0097
a0012c0065t0002g0096
a0001c0062t0002g0097
a0012c0065t0002g0096
 2 HG02698.hp1
HG03942.hp1
HG02698.hp1
HG03942.hp1
 intron_variant MODIFIER c.106+14659C>G
c.106+14659C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420132
chr21:45420143 G
G
 A
A
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.106+14670G>A
c.106+14670G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420143
chr21:45420299 G
G
 A
A
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.106+14826G>A
c.106+14826G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420299
chr21:45420318 C
C
 T
T
 2 a0001c0003t0001g0145
a0011c0040t0001g0046
a0001c0003t0001g0145
a0011c0040t0001g0046
 2 HG02258.hp2
HG03579.hp2
HG02258.hp2
HG03579.hp2
 intron_variant MODIFIER c.106+14845C>T
c.106+14845C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420318
chr21:45420357 G
G
 T
T
 3 a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
 3 HG02055.hp1
HG02559.hp2
HG03195.hp2
HG02055.hp1
HG02559.hp2
HG03195.hp2
 intron_variant MODIFIER c.106+14884G>T
c.106+14884G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420357
chr21:45420426 G
G
 T
T
 8 a0001c0001t0001g0031
a0001c0038t0004g0028
a0001c0038t0004g0029
others(5): Show 
a0001c0001t0001g0031
a0001c0038t0004g0028
a0001c0038t0004g0029
a0002c0021t0002g0001
a0004c0099t0003g0030
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
 8 HG02257.hp1
HG02486.hp2
HG02572.hp1
others(5): Show 
HG02257.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
NA19240.hp2
 intron_variant MODIFIER c.106+14953G>T
c.106+14953G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420426
chr21:45420437 C
C
 T
T
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+14964C>T
c.106+14964C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420437
chr21:45420467 C
C
 T
T
 2 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0085
a0001c0003t0001g0086
 2 HG00735.hp2
HG01106.hp1
HG00735.hp2
HG01106.hp1
 intron_variant MODIFIER c.106+14994C>T
c.106+14994C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420467
chr21:45420608 C
C
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+15135C>T
c.106+15135C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420608
chr21:45420620 A
A
 T
T
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.106+15147A>T
c.106+15147A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420620
chr21:45420676 G
G
 A
A
 2 a0002c0012t0004g0199
a0030c0056t0001g0044
a0002c0012t0004g0199
a0030c0056t0001g0044
 2 HG02622.hp2
HG03486.hp2
HG02622.hp2
HG03486.hp2
 intron_variant MODIFIER c.106+15203G>A
c.106+15203G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420676
chr21:45420713 C
C
 T
T
 4 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 4 HG01261.hp2
HG03130.hp2
HG03453.hp2
others(1): Show 
HG01261.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
 intron_variant MODIFIER c.106+15240C>T
c.106+15240C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420713
chr21:45420852 C
C
 G
G
 1 a0001c0061t0001g0257
a0001c0061t0001g0257
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.106+15379C>G
c.106+15379C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420852
chr21:45420858 C
C
 CG
CG
 11 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
others(8): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0002t0017g0216
a0001c0004t0001g0174
a0001c0005t0002g0217
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0093t0001g0251
 11 HG00408.hp1
HG00558.hp1
HG00621.hp2
others(8): Show 
HG00408.hp1
HG00558.hp1
HG00621.hp2
HG02080.hp1
HG02083.hp1
HG02155.hp1
NA18612.hp2
NA18747.hp1
NA18959.hp2
NA18995.hp1
NA19091.hp2
 intron_variant MODIFIER c.106+15389dupG
c.106+15389dupG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45420858
chr21:45420869 G
G
 A
A
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+15396G>A
c.106+15396G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420869
chr21:45420876 T
T
 C
C
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.106+15403T>C
c.106+15403T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420876
chr21:45420969 G
G
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+15496G>A
c.106+15496G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45420969
chr21:45421017 C
C
 T
T
 6 a0001c0001t0001g0126
a0001c0002t0001g0080
a0001c0003t0001g0005
others(3): Show 
a0001c0001t0001g0126
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
 6 HG00438.hp2
HG02055.hp2
HG02129.hp1
others(3): Show 
HG00438.hp2
HG02055.hp2
HG02129.hp1
HG04115.hp2
HG04228.hp2
NA18966.hp1
 intron_variant MODIFIER c.106+15544C>T
c.106+15544C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421017
chr21:45421033 G
G
 A
A
 6 a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
others(3): Show 
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 6 HG01891.hp2
HG02145.hp1
HG02818.hp1
others(3): Show 
HG01891.hp2
HG02145.hp1
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+15560G>A
c.106+15560G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421033
chr21:45421101 C
C
 T
T
 2 a0001c0003t0001g0221
a0001c0007t0002g0220
a0001c0003t0001g0221
a0001c0007t0002g0220
 2 HG00099.hp2
HG01106.hp2
HG00099.hp2
HG01106.hp2
 intron_variant MODIFIER c.106+15628C>T
c.106+15628C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421101
chr21:45421193 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.106+15720C>T
c.106+15720C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421193
chr21:45421204 C
C
 T
T
 14 a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
others(11): Show 
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
a0001c0001t0002g0278
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0033t0002g0100
a0003c0009t0001g0054
a0007c0031t0002g0123
a0009c0016t0001g0209
a0017c0043t0002g0015
a0029c0071t0002g0134
 14 HG00099.hp1
HG00408.hp2
HG00642.hp2
others(11): Show 
HG00099.hp1
HG00408.hp2
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01192.hp2
HG01978.hp2
NA18945.hp2
NA18954.hp1
NA19002.hp1
NA19007.hp2
NA19064.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.106+15731C>T
c.106+15731C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421204
chr21:45421290 G
G
 A
A
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.106+15817G>A
c.106+15817G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421290
chr21:45421390 C
C
 T
T
 1 a0021c0086t0002g0176
a0021c0086t0002g0176
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.106+15917C>T
c.106+15917C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421390
chr21:45421413 G
G
 A
A
 6 a0001c0007t0002g0078
a0002c0020t0001g0010
a0002c0020t0001g0011
others(3): Show 
a0001c0007t0002g0078
a0002c0020t0001g0010
a0002c0020t0001g0011
a0006c0026t0001g0083
a0019c0096t0015g0045
a0032c0052t0002g0077
 6 HG00140.hp2
HG01074.hp2
HG01081.hp1
others(3): Show 
HG00140.hp2
HG01074.hp2
HG01081.hp1
HG02280.hp1
HG03017.hp2
HG04204.hp2
 intron_variant MODIFIER c.106+15940G>A
c.106+15940G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421413
chr21:45421452 C
C
 T
T
 18 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(15): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 18 HG00280.hp2
HG01261.hp2
HG02258.hp1
others(15): Show 
HG00280.hp2
HG01261.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03579.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.106+15979C>T
c.106+15979C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421452
chr21:45421469 C
C
 T
T
 1 a0001c0008t0002g0240
a0001c0008t0002g0240
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.106+15996C>T
c.106+15996C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421469
chr21:45421482 C
C
 T
T
 3 a0001c0003t0001g0181
a0001c0003t0001g0289
a0003c0010t0006g0014
a0001c0003t0001g0181
a0001c0003t0001g0289
a0003c0010t0006g0014
 3 HG02135.hp1
NA19010.hp1
NA19010.hp2
HG02135.hp1
NA19010.hp1
NA19010.hp2
 intron_variant MODIFIER c.106+16009C>T
c.106+16009C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421482
chr21:45421483 G
G
 A
A
 75 a0001c0001t0001g0031
a0001c0001t0001g0126
a0001c0001t0001g0192
others(72): Show 
a0001c0001t0001g0031
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 75 HG00408.hp1
HG00438.hp2
HG00544.hp2
others(72): Show 
HG00408.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+16010G>A
c.106+16010G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421483
chr21:45421510 C
C
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+16037C>A
c.106+16037C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421510
chr21:45421563 C
C
 T
T
 1 a0001c0002t0002g0235
a0001c0002t0002g0235
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.106+16090C>T
c.106+16090C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421563
chr21:45421695 G
G
 A
A
 2 a0001c0001t0001g0191
a0013c0051t0001g0195
a0001c0001t0001g0191
a0013c0051t0001g0195
 2 HG02257.hp2
HG02818.hp2
HG02257.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+16222G>A
c.106+16222G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421695
chr21:45421777 G
G
 A
A
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.106+16304G>A
c.106+16304G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421777
chr21:45421908 C
C
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.106+16435C>T
c.106+16435C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421908
chr21:45421909 G
G
 A
A
 1 a0003c0010t0006g0014
a0003c0010t0006g0014
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.106+16436G>A
c.106+16436G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421909
chr21:45421980 C
C
 G
G
 9 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(6): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 9 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(6): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+16507C>G
c.106+16507C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45421980
chr21:45422010 C
C
 T
T
 18 a0001c0001t0001g0033
a0001c0004t0001g0026
a0001c0007t0002g0208
others(15): Show 
a0001c0001t0001g0033
a0001c0004t0001g0026
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0037t0001g0062
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0003g0156
a0002c0021t0002g0148
a0004c0091t0001g0056
a0009c0016t0001g0209
a0029c0071t0002g0134
 18 HG00099.hp1
HG00642.hp2
HG00738.hp1
others(15): Show 
HG00099.hp1
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02451.hp1
HG02615.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03471.hp1
HG06807.hp1
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+16537C>T
c.106+16537C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422010
chr21:45422162 A
A
 G
G
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+16689A>G
c.106+16689A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422162
chr21:45422352 G
G
 A
A
 77 a0001c0001t0001g0031
a0001c0001t0001g0126
a0001c0001t0001g0192
others(74): Show 
a0001c0001t0001g0031
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 77 HG00408.hp1
HG00438.hp2
HG00544.hp2
others(74): Show 
HG00408.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+16879G>A
c.106+16879G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422352
chr21:45422379 C
C
 T
T
 1 a0001c0004t0001g0087
a0001c0004t0001g0087
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.106+16906C>T
c.106+16906C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422379
chr21:45422387 C
C
 T
T
 1 a0001c0002t0002g0091
a0001c0002t0002g0091
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.106+16914C>T
c.106+16914C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422387
chr21:45422526 C
C
 T
T
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+17053C>T
c.106+17053C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422526
chr21:45422528 C
C
 T
T
 68 a0001c0001t0001g0031
a0001c0001t0001g0192
a0001c0001t0004g0223
others(65): Show 
a0001c0001t0001g0031
a0001c0001t0001g0192
a0001c0001t0004g0223
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 68 HG00408.hp1
HG00544.hp2
HG00558.hp1
others(65): Show 
HG00408.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+17055C>T
c.106+17055C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422528
chr21:45422561 G
G
 A
A
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+17088G>A
c.106+17088G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422561
chr21:45422577 G
G
 A
A
 20 a0001c0002t0003g0143
a0001c0004t0001g0225
a0001c0055t0003g0152
others(17): Show 
a0001c0002t0003g0143
a0001c0004t0001g0225
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 20 HG00544.hp1
HG00733.hp2
HG02109.hp2
others(17): Show 
HG00544.hp1
HG00733.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG03831.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+17104G>A
c.106+17104G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422577
chr21:45422585 C
C
 T
T
 28 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(25): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 28 HG00621.hp1
HG01192.hp1
HG01257.hp1
others(25): Show 
HG00621.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03239.hp1
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+17112C>T
c.106+17112C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422585
chr21:45422629 G
G
 A
A
 2 a0001c0001t0001g0113
a0001c0001t0004g0129
a0001c0001t0001g0113
a0001c0001t0004g0129
 2 HG02683.hp2
HG04204.hp1
HG02683.hp2
HG04204.hp1
 intron_variant MODIFIER c.106+17156G>A
c.106+17156G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422629
chr21:45422742 C
C
 T
T
 1 a0001c0002t0002g0091
a0001c0002t0002g0091
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.106+17269C>T
c.106+17269C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422742
chr21:45422792 CT
CT
 C
C
 29 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(26): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 29 HG00621.hp1
HG00733.hp1
HG01192.hp1
others(26): Show 
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03239.hp1
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+17331delT
c.106+17331delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45422792
chr21:45422798 T
T
 G
G
 29 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(26): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 29 HG00621.hp1
HG00733.hp1
HG01192.hp1
others(26): Show 
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03239.hp1
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+17325T>G
c.106+17325T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422798
chr21:45422867 A
A
 C
C
 9 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(6): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 9 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(6): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+17394A>C
c.106+17394A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422867
chr21:45422869 C
C
 T
T
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.106+17396C>T
c.106+17396C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422869
chr21:45422886 T
T
 C
C
 23 a0001c0001t0001g0191
a0001c0002t0003g0143
a0001c0003t0001g0110
others(20): Show 
a0001c0001t0001g0191
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 23 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(20): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+17413T>C
c.106+17413T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45422886
chr21:45423089 T
T
 C
C
 176 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(173): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 176 HG00099.hp1
HG00280.hp2
HG00408.hp1
others(173): Show 
HG00099.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+17616T>C
c.106+17616T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423089
chr21:45423109 C
C
 T
T
 21 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
others(18): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+17636C>T
c.106+17636C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423109
chr21:45423113 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+17640C>T
c.106+17640C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423113
chr21:45423308 T
T
 A
A
 1 a0001c0005t0002g0070
a0001c0005t0002g0070
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.106+17835T>A
c.106+17835T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423308
chr21:45423483 GCCCGCCC
GCCCGCCC
 G
G
 5 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(2): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0019c0096t0015g0045
 5 HG01261.hp2
HG02280.hp1
HG03130.hp2
others(2): Show 
HG01261.hp2
HG02280.hp1
HG03130.hp2
HG03453.hp2
NA19043.hp2
 intron_variant MODIFIER c.106+18029_106+1803
others(11): Show 
c.106+18029_106+18035delCCCCCCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45423483
chr21:45423489 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+18016C>T
c.106+18016C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423489
chr21:45423493 C
C
 T
T
 125 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(122): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
 125 HG00099.hp1
HG00408.hp1
HG00438.hp2
others(122): Show 
HG00099.hp1
HG00408.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+18020C>T
c.106+18020C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423493
chr21:45423506 C
C
 A
A
 1 a0001c0004t0001g0213
a0001c0004t0001g0213
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.106+18033C>A
c.106+18033C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423506
chr21:45423551 G
G
 T
T
 4 a0001c0037t0001g0157
a0001c0041t0001g0155
a0004c0023t0002g0138
others(1): Show 
a0001c0037t0001g0157
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 4 HG01891.hp2
HG02145.hp1
HG03195.hp1
others(1): Show 
HG01891.hp2
HG02145.hp1
HG03195.hp1
HG03225.hp1
 intron_variant MODIFIER c.106+18078G>T
c.106+18078G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423551
chr21:45423587 C
C
 G
G
 2 a0002c0012t0004g0040
a0002c0067t0001g0041
a0002c0012t0004g0040
a0002c0067t0001g0041
 2 HG02280.hp2
HG02886.hp2
HG02280.hp2
HG02886.hp2
 intron_variant MODIFIER c.106+18114C>G
c.106+18114C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423587
chr21:45423614 A
A
 G
G
 8 a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
others(5): Show 
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 8 HG02258.hp1
HG02630.hp2
HG02723.hp1
others(5): Show 
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+18141A>G
c.106+18141A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423614
chr21:45423730 G
G
 A
A
 29 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(26): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 29 HG00621.hp1
HG00733.hp1
HG01192.hp1
others(26): Show 
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03239.hp1
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+18257G>A
c.106+18257G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423730
chr21:45423882 T
T
 A
A
 136 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(133): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
 136 HG00099.hp1
HG00408.hp1
HG00438.hp2
others(133): Show 
HG00099.hp1
HG00408.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+18409T>A
c.106+18409T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45423882
chr21:45424016 C
C
 T
T
 29 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(26): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 29 HG00621.hp1
HG00733.hp1
HG01192.hp1
others(26): Show 
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03239.hp1
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+18543C>T
c.106+18543C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424016
chr21:45424022 C
C
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+18549C>T
c.106+18549C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424022
chr21:45424159 G
G
 A
A
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+18686G>A
c.106+18686G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424159
chr21:45424257 G
G
 T
T
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+18784G>T
c.106+18784G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424257
chr21:45424338 C
C
 T
T
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+18865C>T
c.106+18865C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424338
chr21:45424344 TG
TG
 T
T
 22 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0153
others(19): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 22 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(19): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19064.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+18872delG
c.106+18872delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424344
chr21:45424391 G
G
 A
A
 29 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(26): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 29 HG00621.hp1
HG00733.hp1
HG01192.hp1
others(26): Show 
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03239.hp1
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+18918G>A
c.106+18918G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424391
chr21:45424404 C
C
 G
G
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+18931C>G
c.106+18931C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424404
chr21:45424435 C
C
 T
T
 18 a0001c0001t0001g0033
a0001c0004t0001g0026
a0001c0007t0002g0208
others(15): Show 
a0001c0001t0001g0033
a0001c0004t0001g0026
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0037t0001g0062
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0003g0156
a0002c0021t0002g0148
a0004c0091t0001g0056
a0009c0016t0001g0209
a0029c0071t0002g0134
 18 HG00099.hp1
HG00642.hp2
HG00738.hp1
others(15): Show 
HG00099.hp1
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02451.hp1
HG02615.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03471.hp1
HG06807.hp1
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+18962C>T
c.106+18962C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424435
chr21:45424501 G
G
 A
A
 11 a0001c0001t0001g0126
a0001c0001t0001g0191
a0001c0001t0001g0192
others(8): Show 
a0001c0001t0001g0126
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0019c0096t0015g0045
 11 HG00438.hp2
HG02055.hp1
HG02055.hp2
others(8): Show 
HG00438.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02280.hp1
HG02559.hp2
HG02818.hp2
HG03195.hp2
HG04115.hp2
HG04228.hp2
NA18966.hp1
 intron_variant MODIFIER c.106+19028G>A
c.106+19028G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424501
chr21:45424573 A
A
 G
G
 2 a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0019t0003g0065
a0001c0019t0003g0170
 2 HG01891.hp1
NA20129.hp1
HG01891.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+19100A>G
c.106+19100A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424573
chr21:45424730 G
G
 T
T
 4 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 4 HG01261.hp2
HG03130.hp2
HG03453.hp2
others(1): Show 
HG01261.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
 intron_variant MODIFIER c.106+19257G>T
c.106+19257G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424730
chr21:45424733 G
G
 A
A
 22 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
others(19): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 22 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(19): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+19260G>A
c.106+19260G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424733
chr21:45424808 G
G
 A
A
 1 a0001c0019t0003g0065
a0001c0019t0003g0065
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.106+19335G>A
c.106+19335G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424808
chr21:45424835 G
G
 A
A
 9 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(6): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 9 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(6): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+19362G>A
c.106+19362G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424835
chr21:45424959 C
C
 T
T
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.106+19486C>T
c.106+19486C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424959
chr21:45424969 G
G
 A
A
 4 a0001c0037t0001g0157
a0001c0041t0001g0155
a0004c0023t0002g0138
others(1): Show 
a0001c0037t0001g0157
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 4 HG01891.hp2
HG02145.hp1
HG03195.hp1
others(1): Show 
HG01891.hp2
HG02145.hp1
HG03195.hp1
HG03225.hp1
 intron_variant MODIFIER c.106+19496G>A
c.106+19496G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45424969
chr21:45425050 C
C
 T
T
 2 a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0002t0002g0023
a0001c0002t0002g0236
 2 HG00140.hp1
NA18999.hp2
HG00140.hp1
NA18999.hp2
 intron_variant MODIFIER c.106+19577C>T
c.106+19577C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425050
chr21:45425078 G
G
 T
T
 154 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(151): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
 154 HG00099.hp1
HG00408.hp1
HG00438.hp2
others(151): Show 
HG00099.hp1
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+19605G>T
c.106+19605G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425078
chr21:45425082 G
G
 A
A
 19 a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0069t0005g0038
others(16): Show 
a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 19 HG00544.hp1
HG00733.hp2
HG02109.hp2
others(16): Show 
HG00544.hp1
HG00733.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+19609G>A
c.106+19609G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425082
chr21:45425105 C
C
 T
T
 103 a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0142
others(100): Show 
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 103 HG00408.hp1
HG00544.hp2
HG00558.hp1
others(100): Show 
HG00408.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+19632C>T
c.106+19632C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425105
chr21:45425165 C
C
 T
T
 2 a0001c0003t0001g0145
a0001c0008t0002g0272
a0001c0003t0001g0145
a0001c0008t0002g0272
 2 HG01978.hp1
HG03579.hp2
HG01978.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+19692C>T
c.106+19692C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425165
chr21:45425266 T
T
 C
C
 154 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(151): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
 154 HG00099.hp1
HG00408.hp1
HG00438.hp2
others(151): Show 
HG00099.hp1
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+19793T>C
c.106+19793T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425266
chr21:45425462 C
C
 A
A
 3 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
 3 HG02647.hp1
HG02965.hp2
NA18522.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.106+19989C>A
c.106+19989C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425462
chr21:45425602 A
A
 G
G
 66 a0001c0001t0001g0031
a0001c0001t0001g0103
a0001c0001t0004g0223
others(63): Show 
a0001c0001t0001g0031
a0001c0001t0001g0103
a0001c0001t0004g0223
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 66 HG00408.hp1
HG00544.hp2
HG00558.hp1
others(63): Show 
HG00408.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA18995.hp2
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+20129A>G
c.106+20129A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425602
chr21:45425606 T
T
 C
C
 1 a0001c0002t0002g0114
a0001c0002t0002g0114
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.106+20133T>C
c.106+20133T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425606
chr21:45425676 C
C
 T
T
 1 a0005c0036t0001g0292
a0005c0036t0001g0292
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.106+20203C>T
c.106+20203C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425676
chr21:45425699 G
G
 C
C
 18 a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0069t0005g0038
others(15): Show 
a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 18 HG00544.hp1
HG00733.hp2
HG02109.hp2
others(15): Show 
HG00544.hp1
HG00733.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA20905.hp2
 intron_variant MODIFIER c.106+20226G>C
c.106+20226G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425699
chr21:45425797 C
C
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+20324C>T
c.106+20324C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425797
chr21:45425877 G
G
 T
T
 2 a0004c0100t0001g0039
a0005c0060t0001g0063
a0004c0100t0001g0039
a0005c0060t0001g0063
 2 HG03098.hp1
HG03209.hp1
HG03098.hp1
HG03209.hp1
 intron_variant MODIFIER c.106+20404G>T
c.106+20404G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425877
chr21:45425878 A
A
 T
T
 2 a0004c0100t0001g0039
a0005c0060t0001g0063
a0004c0100t0001g0039
a0005c0060t0001g0063
 2 HG03098.hp1
HG03209.hp1
HG03098.hp1
HG03209.hp1
 intron_variant MODIFIER c.106+20405A>T
c.106+20405A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45425878
chr21:45426026 C
C
 T
T
 15 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(12): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 15 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(12): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+20553C>T
c.106+20553C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426026
chr21:45426063 C
C
 T
T
 15 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(12): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 15 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(12): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+20590C>T
c.106+20590C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426063
chr21:45426064 G
G
 A
A
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.106+20591G>A
c.106+20591G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426064
chr21:45426076 A
A
 G
G
 9 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(6): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 9 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(6): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+20603A>G
c.106+20603A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426076
chr21:45426100 C
C
 T
T
 65 a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0002t0002g0111
others(62): Show 
a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 65 HG00408.hp1
HG00544.hp2
HG00558.hp1
others(62): Show 
HG00408.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+20627C>T
c.106+20627C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426100
chr21:45426136 G
G
 C
C
 17 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(14): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0019c0096t0015g0045
a0036c0048t0004g0184
a0037c0049t0004g0183
 17 HG00280.hp2
HG02258.hp1
HG02280.hp1
others(14): Show 
HG00280.hp2
HG02258.hp1
HG02280.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+20663G>C
c.106+20663G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426136
chr21:45426173 T
T
 C
C
 170 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(167): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 170 HG00099.hp1
HG00280.hp2
HG00408.hp1
others(167): Show 
HG00099.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+20700T>C
c.106+20700T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426173
chr21:45426207 C
C
 T
T
 24 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
others(21): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0026c0044t0001g0037
 24 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(21): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG01515.hp1
HG01517.hp1
HG02109.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+20734C>T
c.106+20734C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426207
chr21:45426243 T
T
 G
G
 1 a0002c0021t0002g0186
a0002c0021t0002g0186
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.106+20770T>G
c.106+20770T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426243
chr21:45426418 G
G
 A
A
 170 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(167): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 170 HG00099.hp1
HG00280.hp2
HG00408.hp1
others(167): Show 
HG00099.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+20945G>A
c.106+20945G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426418
chr21:45426447 G
G
 A
A
 1 a0029c0071t0002g0134
a0029c0071t0002g0134
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.106+20974G>A
c.106+20974G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426447
chr21:45426451 C
C
 A
A
 3 a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
 3 HG00438.hp1
HG00597.hp2
HG02129.hp2
HG00438.hp1
HG00597.hp2
HG02129.hp2
 intron_variant MODIFIER c.106+20978C>A
c.106+20978C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426451
chr21:45426454 C
C
 G
G
 16 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(13): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 16 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(13): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+20981C>G
c.106+20981C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426454
chr21:45426471 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+20998G>A
c.106+20998G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426471
chr21:45426493 G
G
 A
A
 1 a0001c0001t0001g0253
a0001c0001t0001g0253
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.106+21020G>A
c.106+21020G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426493
chr21:45426538 G
G
 A
A
 1 a0002c0021t0002g0001
a0002c0021t0002g0001
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.106+21065G>A
c.106+21065G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426538
chr21:45426550 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+21077C>T
c.106+21077C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426550
chr21:45426575 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+21102G>A
c.106+21102G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426575
chr21:45426615 A
A
 G
G
 167 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(164): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 167 HG00099.hp1
HG00280.hp2
HG00408.hp1
others(164): Show 
HG00099.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+21142A>G
c.106+21142A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426615
chr21:45426642 G
G
 A
A
 9 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(6): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 9 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(6): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+21169G>A
c.106+21169G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426642
chr21:45426651 G
G
 A
A
 3 a0001c0003t0001g0221
a0001c0007t0002g0220
a0006c0026t0003g0219
a0001c0003t0001g0221
a0001c0007t0002g0220
a0006c0026t0003g0219
 3 HG00099.hp2
HG01106.hp2
homoSapiens_chm13v2.hp1
HG00099.hp2
HG01106.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+21178G>A
c.106+21178G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426651
chr21:45426674 G
G
 T
T
 1 a0002c0084t0002g0212
a0002c0084t0002g0212
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.106+21201G>T
c.106+21201G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426674
chr21:45426873 G
G
 A
A
 9 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(6): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0002c0012t0004g0049
a0004c0023t0002g0138
a0004c0023t0002g0163
 9 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(6): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+21400G>A
c.106+21400G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426873
chr21:45426927 T
T
 C
C
 7 a0001c0001t0001g0126
a0001c0002t0001g0080
a0001c0003t0001g0005
others(4): Show 
a0001c0001t0001g0126
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
 7 HG00438.hp2
HG02055.hp2
HG02129.hp1
others(4): Show 
HG00438.hp2
HG02055.hp2
HG02129.hp1
HG04115.hp2
HG04228.hp2
NA18966.hp1
NA18969.hp2
 intron_variant MODIFIER c.106+21454T>C
c.106+21454T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426927
chr21:45426929 C
C
 T
T
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.106+21456C>T
c.106+21456C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426929
chr21:45426962 G
G
 A
A
 4 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(1): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 4 HG01261.hp2
HG03130.hp2
HG03453.hp2
others(1): Show 
HG01261.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
 intron_variant MODIFIER c.106+21489G>A
c.106+21489G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45426962
chr21:45427029 A
A
 G
G
 170 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
others(167): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 170 HG00099.hp1
HG00280.hp2
HG00408.hp1
others(167): Show 
HG00099.hp1
HG00280.hp2
HG00408.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+21556A>G
c.106+21556A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427029
chr21:45427150 T
T
 G
G
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.106+21677T>G
c.106+21677T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427150
chr21:45427170 G
G
 A
A
 16 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(13): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 16 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(13): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+21697G>A
c.106+21697G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427170
chr21:45427344 A
A
 G
G
 1 a0009c0016t0001g0209
a0009c0016t0001g0209
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.106+21871A>G
c.106+21871A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427344
chr21:45427351 C
C
 T
T
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.106+21878C>T
c.106+21878C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427351
chr21:45427371 C
C
 T
T
 22 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
others(19): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 22 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(19): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+21898C>T
c.106+21898C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427371
chr21:45427415 C
C
 G
G
 3 a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
 3 HG02257.hp1
HG02895.hp2
NA19240.hp2
HG02257.hp1
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.106+21942C>G
c.106+21942C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427415
chr21:45427448 G
G
 A
A
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.106+21975G>A
c.106+21975G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427448
chr21:45427501 C
C
 T
T
 1 a0001c0011t0001g0016
a0001c0011t0001g0016
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.106+22028C>T
c.106+22028C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427501
chr21:45427502 G
G
 A
A
 27 a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0001t0001g0192
others(24): Show 
a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0037t0001g0062
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0003g0156
a0002c0021t0002g0148
a0004c0091t0001g0056
a0009c0016t0001g0209
a0029c0071t0002g0134
 27 HG00099.hp1
HG00438.hp2
HG00642.hp2
others(24): Show 
HG00099.hp1
HG00438.hp2
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02129.hp1
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18966.hp1
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+22029G>A
c.106+22029G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427502
chr21:45427844 C
C
 T
T
 16 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(13): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 16 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(13): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+22371C>T
c.106+22371C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427844
chr21:45427902 C
C
 T
T
 21 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
others(18): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+22429C>T
c.106+22429C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427902
chr21:45427955 G
G
 A
A
 3 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
 3 HG02647.hp1
HG02965.hp2
NA18522.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.106+22482G>A
c.106+22482G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45427955
chr21:45428047 G
G
 A
A
 22 a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
others(19): Show 
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 22 HG00544.hp1
HG00733.hp2
HG01258.hp2
others(19): Show 
HG00544.hp1
HG00733.hp2
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+22574G>A
c.106+22574G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428047
chr21:45428058 G
G
 A
A
 3 a0001c0069t0005g0038
a0003c0046t0001g0002
a0026c0044t0001g0037
a0001c0069t0005g0038
a0003c0046t0001g0002
a0026c0044t0001g0037
 3 HG00733.hp2
HG02109.hp2
HG02922.hp2
HG00733.hp2
HG02109.hp2
HG02922.hp2
 intron_variant MODIFIER c.106+22585G>A
c.106+22585G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428058
chr21:45428064 A
A
 C
C
 19 a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0069t0005g0038
others(16): Show 
a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0081t0003g0154
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 19 HG00544.hp1
HG00733.hp2
HG02109.hp2
others(16): Show 
HG00544.hp1
HG00733.hp2
HG02109.hp2
HG02559.hp1
HG02630.hp1
HG02683.hp1
HG02895.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18999.hp1
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+22591A>C
c.106+22591A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428064
chr21:45428156 C
C
 T
T
 3 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
 3 HG02145.hp2
HG02809.hp2
HG03579.hp2
HG02145.hp2
HG02809.hp2
HG03579.hp2
 intron_variant MODIFIER c.106+22683C>T
c.106+22683C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428156
chr21:45428162 T
T
 G
G
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+22689T>G
c.106+22689T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428162
chr21:45428231 G
G
 A
A
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.106+22758G>A
c.106+22758G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428231
chr21:45428241 C
C
 T
T
 32 a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
others(29): Show 
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0061t0001g0257
a0002c0012t0004g0058
a0021c0086t0002g0176
 32 HG00621.hp1
HG00733.hp1
HG01192.hp1
others(29): Show 
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02145.hp2
HG02273.hp1
HG02809.hp2
HG03239.hp1
HG03579.hp2
HG03688.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+22768C>T
c.106+22768C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428241
chr21:45428323 G
G
 A
A
 16 a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
others(13): Show 
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 16 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(13): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+22850G>A
c.106+22850G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428323
chr21:45428367 A
A
 G
G
 134 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(131): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 134 HG00280.hp1
HG00408.hp1
HG00544.hp1
others(131): Show 
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+22894A>G
c.106+22894A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428367
chr21:45428405 A
A
 G
G
 28 a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0001t0001g0192
others(25): Show 
a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0003t0003g0264
a0001c0004t0001g0026
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0037t0001g0062
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0003g0156
a0002c0021t0002g0148
a0004c0091t0001g0056
a0009c0016t0001g0209
a0029c0071t0002g0134
 28 HG00099.hp1
HG00438.hp2
HG00642.hp2
others(25): Show 
HG00099.hp1
HG00438.hp2
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02129.hp1
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18966.hp1
NA18969.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.106+22932A>G
c.106+22932A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428405
chr21:45428411 C
C
 T
T
 65 a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0002t0002g0111
others(62): Show 
a0001c0001t0001g0031
a0001c0001t0004g0223
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 65 HG00408.hp1
HG00544.hp2
HG00558.hp1
others(62): Show 
HG00408.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+22938C>T
c.106+22938C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428411
chr21:45428457 C
C
 T
T
 15 a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
others(12): Show 
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 15 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(12): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+22984C>T
c.106+22984C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428457
chr21:45428516 G
G
 A
A
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.106+23043G>A
c.106+23043G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428516
chr21:45428524 C
C
 T
T
 14 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(11): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0074t0004g0200
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0199
a0004c0023t0002g0138
a0004c0023t0002g0163
a0011c0040t0001g0046
a0030c0056t0001g0044
 14 HG01261.hp2
HG01891.hp2
HG02145.hp1
others(11): Show 
HG01261.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp2
HG02622.hp2
HG02818.hp1
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
NA19043.hp2
 intron_variant MODIFIER c.106+23051C>T
c.106+23051C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428524
chr21:45428545 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.106+23072G>A
c.106+23072G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428545
chr21:45428584 A
A
 T
T
 7 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(4): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0002c0012t0004g0199
a0011c0040t0001g0046
a0030c0056t0001g0044
 7 HG01261.hp2
HG02258.hp2
HG02622.hp2
others(4): Show 
HG01261.hp2
HG02258.hp2
HG02622.hp2
HG03130.hp2
HG03453.hp2
HG03486.hp2
NA19043.hp2
 intron_variant MODIFIER c.106+23111A>T
c.106+23111A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428584
chr21:45428592 G
G
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.106+23119G>A
c.106+23119G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428592
chr21:45428616 A
A
 G
G
 8 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
others(5): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0074t0004g0200
a0002c0012t0004g0199
a0011c0040t0001g0046
a0030c0056t0001g0044
 8 HG01261.hp2
HG02258.hp2
HG02622.hp2
others(5): Show 
HG01261.hp2
HG02258.hp2
HG02622.hp2
HG03130.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp1
NA19043.hp2
 intron_variant MODIFIER c.106+23143A>G
c.106+23143A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428616
chr21:45428674 G
G
 A
A
 27 a0001c0001t0013g0276
a0001c0003t0001g0043
a0001c0003t0001g0081
others(24): Show 
a0001c0001t0013g0276
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0003c0010t0006g0014
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0160
a0007c0034t0001g0141
a0009c0016t0001g0084
a0032c0052t0002g0077
 27 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(24): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp2
HG04204.hp2
NA18612.hp1
NA18961.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+23201G>A
c.106+23201G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428674
chr21:45428705 C
C
 T
T
 1 a0001c0001t0001g0246
a0001c0001t0001g0246
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.106+23232C>T
c.106+23232C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428705
chr21:45428706 G
G
 A
A
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.106+23233G>A
c.106+23233G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428706
chr21:45428727 C
C
 T
T
 2 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0111
a0001c0002t0002g0137
 2 HG02155.hp1
NA18995.hp1
HG02155.hp1
NA18995.hp1
 intron_variant MODIFIER c.106+23254C>T
c.106+23254C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428727
chr21:45428764 C
C
 T
T
 1 a0001c0013t0002g0122
a0001c0013t0002g0122
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.106+23291C>T
c.106+23291C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428764
chr21:45428803 G
G
 T
T
 1 a0001c0017t0003g0284
a0001c0017t0003g0284
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.106+23330G>T
c.106+23330G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428803
chr21:45428853 G
G
 A
A
 1 a0021c0086t0002g0176
a0021c0086t0002g0176
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.106+23380G>A
c.106+23380G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428853
chr21:45428893 T
T
 G
G
 4 a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+23420T>G
c.106+23420T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428893
chr21:45428903 C
C
 CT
CT
 7 a0001c0001t0004g0223
a0001c0004t0001g0087
a0001c0005t0002g0224
others(4): Show 
a0001c0001t0004g0223
a0001c0004t0001g0087
a0001c0005t0002g0224
a0006c0028t0003g0230
a0012c0065t0002g0096
a0013c0051t0001g0195
a0019c0096t0015g0045
 7 HG01346.hp1
HG01981.hp2
HG02257.hp2
others(4): Show 
HG01346.hp1
HG01981.hp2
HG02257.hp2
HG02280.hp1
HG03239.hp2
HG03704.hp2
HG03942.hp1
 intron_variant MODIFIER c.106+23443dupT
c.106+23443dupT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45428903
chr21:45428903 CT
CT
 C
C
 17 a0001c0001t0001g0033
a0001c0002t0012g0109
a0001c0004t0001g0026
others(14): Show 
a0001c0001t0001g0033
a0001c0002t0012g0109
a0001c0004t0001g0026
a0001c0007t0002g0208
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0037t0001g0062
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0003g0156
a0002c0021t0002g0148
a0004c0091t0001g0056
a0009c0016t0001g0209
a0029c0071t0002g0134
 17 HG00099.hp1
HG00642.hp2
HG00738.hp1
others(14): Show 
HG00099.hp1
HG00642.hp2
HG00738.hp1
HG01123.hp1
HG01192.hp2
HG01978.hp2
HG02109.hp1
HG02451.hp1
HG02615.hp2
HG02809.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03471.hp1
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.106+23443delT
c.106+23443delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45428903
chr21:45428916 TA
TA
 T
T
 15 a0001c0002t0002g0117
a0001c0002t0002g0178
a0001c0022t0001g0008
others(12): Show 
a0001c0002t0002g0117
a0001c0002t0002g0178
a0001c0022t0001g0008
a0001c0035t0001g0073
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0005c0036t0001g0292
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0017c0043t0002g0015
a0020c0094t0011g0075
a0023c0085t0002g0106
 15 HG00323.hp2
HG00639.hp2
HG01070.hp1
others(12): Show 
HG00323.hp2
HG00639.hp2
HG01070.hp1
HG01074.hp2
HG01081.hp1
HG02451.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03471.hp2
NA18522.hp1
NA18906.hp1
NA18977.hp1
NA19057.hp2
NA19091.hp1
 intron_variant MODIFIER c.106+23445delA
c.106+23445delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45428916
chr21:45428917 A
A
 T
T
 82 a0001c0001t0001g0031
a0001c0001t0001g0120
a0001c0001t0001g0121
others(79): Show 
a0001c0001t0001g0031
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0203
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0002g0278
a0001c0001t0004g0223
a0001c0002t0001g0024
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0238
a0001c0003t0001g0048
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0013t0002g0122
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0062t0002g0097
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0021t0002g0001
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0060t0001g0063
a0007c0031t0002g0123
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 82 HG00408.hp1
HG00408.hp2
HG00423.hp1
others(79): Show 
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG00735.hp1
HG00738.hp2
HG01081.hp2
HG01167.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03209.hp1
HG03225.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
NA18612.hp2
NA18945.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18966.hp2
NA18995.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19060.hp1
NA19064.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+23444A>T
c.106+23444A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428917
chr21:45428926 C
C
 T
T
 179 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(176): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 179 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(176): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+23453C>T
c.106+23453C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428926
chr21:45428972 G
G
 C
C
 8 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(5): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0082t0008g0053
a0004c0023t0002g0138
a0004c0023t0002g0163
 8 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(5): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03195.hp1
HG03225.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+23499G>C
c.106+23499G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45428972
chr21:45429028 G
G
 A
A
 1 a0012c0088t0002g0006
a0012c0088t0002g0006
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.106+23555G>A
c.106+23555G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429028
chr21:45429048 G
G
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+23575G>A
c.106+23575G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429048
chr21:45429050 G
G
 A
A
 12 a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
others(9): Show 
a0001c0002t0001g0095
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 12 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(9): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+23577G>A
c.106+23577G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429050
chr21:45429058 A
A
 G
G
 2 a0001c0001t0001g0121
a0001c0002t0002g0140
a0001c0001t0001g0121
a0001c0002t0002g0140
 2 HG00738.hp2
HG01261.hp1
HG00738.hp2
HG01261.hp1
 intron_variant MODIFIER c.106+23585A>G
c.106+23585A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429058
chr21:45429069 T
T
 G
G
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.106+23596T>G
c.106+23596T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429069
chr21:45429108 G
G
 A
A
 5 a0001c0001t0001g0248
a0001c0002t0001g0095
a0001c0003t0001g0181
others(2): Show 
a0001c0001t0001g0248
a0001c0002t0001g0095
a0001c0003t0001g0181
a0001c0037t0001g0062
a0006c0028t0003g0059
 5 HG00280.hp2
HG02647.hp2
HG02970.hp2
others(2): Show 
HG00280.hp2
HG02647.hp2
HG02970.hp2
NA19002.hp1
NA19010.hp1
 intron_variant MODIFIER c.106+23635G>A
c.106+23635G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429108
chr21:45429197 A
A
 G
G
 1 a0001c0024t0001g0256
a0001c0024t0001g0256
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.106+23724A>G
c.106+23724A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429197
chr21:45429266 C
C
 A
A
 3 a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
 3 HG02055.hp1
HG02559.hp2
HG03195.hp2
HG02055.hp1
HG02559.hp2
HG03195.hp2
 intron_variant MODIFIER c.106+23793C>A
c.106+23793C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429266
chr21:45429366 T
T
 C
C
 166 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(163): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 166 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(163): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+23893T>C
c.106+23893T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429366
chr21:45429407 AG
AG
 A
A
 45 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(42): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0061t0001g0257
a0001c0081t0003g0154
a0002c0012t0004g0058
a0002c0084t0002g0212
a0008c0101t0005g0027
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00280.hp1
HG00438.hp2
HG00621.hp1
others(42): Show 
HG00280.hp1
HG00438.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02273.hp1
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03239.hp1
HG03453.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18966.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+23938delG
c.106+23938delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45429407
chr21:45429448 G
G
 A
A
 2 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0038t0004g0028
a0001c0038t0004g0029
 2 HG02572.hp1
HG02622.hp1
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.106+23975G>A
c.106+23975G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429448
chr21:45429481 A
A
 G
G
 1 a0001c0004t0001g0087
a0001c0004t0001g0087
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.106+24008A>G
c.106+24008A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429481
chr21:45429519 A
A
 G
G
 10 a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
others(7): Show 
a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 10 HG02257.hp2
HG02258.hp2
HG02559.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.106+24046A>G
c.106+24046A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429519
chr21:45429587 C
C
 A
A
 11 a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
others(8): Show 
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0247
 11 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(8): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG02055.hp2
HG02129.hp1
HG02647.hp1
HG02965.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA19088.hp2
 intron_variant MODIFIER c.106+24114C>A
c.106+24114C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429587
chr21:45429645 C
C
 T
T
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+24172C>T
c.106+24172C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429645
chr21:45429646 A
A
 G
G
 113 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0127
others(110): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0067t0001g0041
a0003c0009t0001g0247
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 113 HG00280.hp2
HG00408.hp1
HG00423.hp1
others(110): Show 
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04115.hp2
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+24173A>G
c.106+24173A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429646
chr21:45429737 A
A
 G
G
 14 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(11): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0247
 14 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(11): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02559.hp2
HG02647.hp1
HG02965.hp2
HG03195.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA19088.hp2
 intron_variant MODIFIER c.106+24264A>G
c.106+24264A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429737
chr21:45429835 T
T
 C
C
 31 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
others(28): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0041t0001g0155
a0001c0074t0004g0200
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0199
a0003c0009t0001g0247
a0004c0023t0002g0138
a0004c0023t0002g0163
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 31 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(28): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA19088.hp2
 intron_variant MODIFIER c.106+24362T>C
c.106+24362T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429835
chr21:45429838 G
G
 A
A
 4 a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+24365G>A
c.106+24365G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429838
chr21:45429845 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+24372G>A
c.106+24372G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429845
chr21:45429863 G
G
 A
A
 14 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(11): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0247
 14 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(11): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02559.hp2
HG02647.hp1
HG02965.hp2
HG03195.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA19088.hp2
 intron_variant MODIFIER c.106+24390G>A
c.106+24390G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429863
chr21:45429896 G
G
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+24423G>A
c.106+24423G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45429896
chr21:45430003 G
G
 A
A
 37 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(34): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0061t0001g0257
a0001c0081t0003g0154
a0002c0012t0004g0058
a0002c0084t0002g0212
a0008c0101t0005g0027
a0021c0086t0002g0176
a0026c0044t0001g0037
a0036c0048t0004g0184
a0037c0049t0004g0183
 37 HG00280.hp1
HG00423.hp2
HG00621.hp1
others(34): Show 
HG00280.hp1
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp2
HG03239.hp1
HG03453.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+24530G>A
c.106+24530G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430003
chr21:45430101 G
G
 GCCCTCTC
others(68): Show 
GCCCTCTCATCCTCTCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGG
TTTGGGGGCCCCCTGTCTCCCTGGCA
 9 a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
others(6): Show 
a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 9 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(6): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+24635_106+2463
others(79): Show 
c.106+24635_106+24636insATCCTCTCCTGCATGTGCTGTGTCCG
TGAAGTGGGGTCATGGTTTGGGGGCCCCCTGTCTCCCTGGCACCCTCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45430101
chr21:45430101 G
G
 GCCCTCTC
others(208): Show 
GCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTCATCCTCTCC
TGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCATCT
CCCTAGCGCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTCAT
CCTCTCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCC
CCCTGTCTCCCTGGCA
 7 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(4): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0041t0001g0155
a0001c0082t0008g0053
a0004c0023t0002g0138
a0004c0023t0002g0163
 7 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(4): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03225.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+24649_106+2465
others(219): Show 
c.106+24649_106+24650insATCTCCCTAGCGCCCTCTCATCCTCT
CCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCAT
CTCCCTAGCGCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTC
ATCCTCTCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGG
CCCCCTGTCTCCCTGGCACCCTCTCGTTGGGGACCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45430101
chr21:45430101 G
G
 GCCCTCTC
others(101): Show 
GCCCTCTCGTTGGGGACCCCCCATCTCCCTAGCGCCCTCTCATCCTCTCC
TGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCTGTC
TCCCTGGCA
 50 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(47): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0061t0001g0257
a0001c0081t0003g0154
a0002c0012t0004g0058
a0002c0084t0002g0212
a0003c0009t0001g0247
a0008c0101t0005g0027
a0019c0096t0015g0045
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 50 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(47): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02273.hp1
HG02280.hp1
HG02559.hp2
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18966.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+24649_106+2465
others(112): Show 
c.106+24649_106+24650insATCTCCCTAGCGCCCTCTCATCCTCT
CCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCTG
TCTCCCTGGCACCCTCTCGTTGGGGACCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45430101
chr21:45430101 G
G
 GCCCTCTC
others(102): Show 
GCCCTCTCGTTGGGGACCCCCCCATCTCCCTAGCGCCCTCTCATCCTCTC
CTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCTGT
CTCCCTGGCA
 1 a0001c0002t0002g0188
a0001c0002t0002g0188
 1 NA18998.hp1
NA18998.hp1
 intron_variant MODIFIER c.106+24649_106+2465
others(113): Show 
c.106+24649_106+24650insCATCTCCCTAGCGCCCTCTCATCCTC
TCCTGCATGTGCTGTGTCCGTGAAGTGGGGTCATGGTTTGGGGGCCCCCT
GTCTCCCTGGCACCCTCTCGTTGGGGACCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45430101
chr21:45430123 G
G
 A
A
 10 a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
others(7): Show 
a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 10 HG02257.hp2
HG02258.hp2
HG02559.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.106+24650G>A
c.106+24650G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430123
chr21:45430142 G
G
 A
A
 10 a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
others(7): Show 
a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 10 HG02257.hp2
HG02258.hp2
HG02559.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.106+24669G>A
c.106+24669G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430142
chr21:45430143 C
C
 T
T
 10 a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
others(7): Show 
a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 10 HG02257.hp2
HG02258.hp2
HG02559.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.106+24670C>T
c.106+24670C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430143
chr21:45430148 G
G
 T
T
 10 a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
others(7): Show 
a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 10 HG02257.hp2
HG02258.hp2
HG02559.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.106+24675G>T
c.106+24675G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430148
chr21:45430154 A
A
 G
G
 4 a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+24681A>G
c.106+24681A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430154
chr21:45430167 A
A
 G
G
 10 a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
others(7): Show 
a0001c0001t0001g0191
a0001c0074t0004g0200
a0002c0012t0004g0049
a0002c0012t0004g0199
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 10 HG02257.hp2
HG02258.hp2
HG02559.hp1
others(7): Show 
HG02257.hp2
HG02258.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.106+24694A>G
c.106+24694A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430167
chr21:45430191 G
G
 C
C
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+24718G>C
c.106+24718G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430191
chr21:45430280 G
G
 A
A
 13 a0001c0001t0001g0142
a0001c0002t0001g0095
a0001c0002t0012g0109
others(10): Show 
a0001c0001t0001g0142
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0019c0096t0015g0045
 13 HG00280.hp2
HG02145.hp2
HG02258.hp1
others(10): Show 
HG00280.hp2
HG02145.hp2
HG02258.hp1
HG02280.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
HG03579.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+24807G>A
c.106+24807G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430280
chr21:45430314 C
C
 T
T
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.106+24841C>T
c.106+24841C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430314
chr21:45430351 G
G
 A
A
 1 a0003c0009t0001g0247
a0003c0009t0001g0247
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.106+24878G>A
c.106+24878G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430351
chr21:45430362 C
C
 A
A
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.106+24889C>A
c.106+24889C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430362
chr21:45430370 G
G
 A
A
 2 a0002c0012t0004g0199
a0030c0056t0001g0044
a0002c0012t0004g0199
a0030c0056t0001g0044
 2 HG02622.hp2
HG03486.hp2
HG02622.hp2
HG03486.hp2
 intron_variant MODIFIER c.106+24897G>A
c.106+24897G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430370
chr21:45430396 A
A
 G
G
 9 a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
others(6): Show 
a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 9 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(6): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+24923A>G
c.106+24923A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430396
chr21:45430437 G
G
 A
A
 11 a0001c0003t0001g0043
a0001c0003t0001g0085
a0001c0003t0001g0086
others(8): Show 
a0001c0003t0001g0043
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0007t0002g0078
a0001c0007t0002g0208
a0006c0026t0001g0083
a0006c0072t0002g0082
a0009c0016t0001g0084
a0016c0042t0001g0118
a0032c0052t0002g0077
 11 HG00140.hp2
HG00642.hp1
HG00735.hp2
others(8): Show 
HG00140.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01361.hp2
HG02602.hp2
HG03017.hp2
HG04204.hp2
NA18961.hp2
 intron_variant MODIFIER c.106+24964G>A
c.106+24964G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430437
chr21:45430612 G
G
 A
A
 7 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(4): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0041t0001g0155
a0001c0082t0008g0053
a0004c0023t0002g0138
a0004c0023t0002g0163
 7 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(4): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03225.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+25139G>A
c.106+25139G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430612
chr21:45430661 G
G
 A
A
 1 a0001c0041t0001g0155
a0001c0041t0001g0155
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.106+25188G>A
c.106+25188G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430661
chr21:45430786 C
C
 T
T
 2 a0003c0046t0001g0002
a0026c0044t0001g0037
a0003c0046t0001g0002
a0026c0044t0001g0037
 2 HG00733.hp2
HG02922.hp2
HG00733.hp2
HG02922.hp2
 intron_variant MODIFIER c.106+25313C>T
c.106+25313C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430786
chr21:45430832 C
C
 G
G
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+25359C>G
c.106+25359C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430832
chr21:45430835 G
G
 A
A
 1 a0011c0040t0001g0046
a0011c0040t0001g0046
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+25362G>A
c.106+25362G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430835
chr21:45430838 G
G
 A
A
 10 a0001c0001t0001g0031
a0001c0037t0001g0157
a0001c0038t0004g0028
others(7): Show 
a0001c0001t0001g0031
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0002c0021t0002g0001
a0004c0099t0003g0030
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
 10 HG02109.hp2
HG02257.hp1
HG02486.hp2
others(7): Show 
HG02109.hp2
HG02257.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03195.hp1
NA19240.hp2
 intron_variant MODIFIER c.106+25365G>A
c.106+25365G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430838
chr21:45430915 A
A
 G
G
 1 a0003c0010t0002g0068
a0003c0010t0002g0068
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.106+25442A>G
c.106+25442A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430915
chr21:45430916 C
C
 A
A
 1 a0003c0010t0002g0068
a0003c0010t0002g0068
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.106+25443C>A
c.106+25443C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430916
chr21:45430962 G
G
 C
C
 1 a0001c0004t0001g0290
a0001c0004t0001g0290
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.106+25489G>C
c.106+25489G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430962
chr21:45430994 C
C
 G
G
 2 a0036c0048t0004g0184
a0037c0049t0004g0183
a0036c0048t0004g0184
a0037c0049t0004g0183
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.106+25521C>G
c.106+25521C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45430994
chr21:45431011 C
C
 G
G
 15 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(12): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0247
 15 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(12): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02559.hp2
HG02647.hp1
HG02965.hp2
HG03195.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA18969.hp2
NA19088.hp2
 intron_variant MODIFIER c.106+25538C>G
c.106+25538C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431011
chr21:45431017 G
G
 A
A
 2 a0002c0012t0004g0199
a0030c0056t0001g0044
a0002c0012t0004g0199
a0030c0056t0001g0044
 2 HG02622.hp2
HG03486.hp2
HG02622.hp2
HG03486.hp2
 intron_variant MODIFIER c.106+25544G>A
c.106+25544G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431017
chr21:45431073 CTGGTTT
CTGGTTT
 C
C
 60 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(57): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0061t0001g0257
a0001c0081t0003g0154
a0002c0012t0004g0058
a0002c0084t0002g0212
a0003c0009t0001g0247
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 60 HG00280.hp1
HG00280.hp2
HG00423.hp2
others(57): Show 
HG00280.hp1
HG00280.hp2
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02258.hp1
HG02273.hp1
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18906.hp2
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18966.hp1
NA18969.hp2
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+25601_106+2560
others(10): Show 
c.106+25601_106+25606delTGGTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431073
chr21:45431104 C
C
 T
T
 36 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(33): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0061t0001g0257
a0001c0081t0003g0154
a0002c0012t0004g0058
a0002c0084t0002g0212
a0008c0101t0005g0027
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 36 HG00280.hp1
HG00423.hp2
HG00621.hp1
others(33): Show 
HG00280.hp1
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03453.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+25631C>T
c.106+25631C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431104
chr21:45431117 C
C
 A
A
 1 a0001c0032t0001g0147
a0001c0032t0001g0147
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.106+25644C>A
c.106+25644C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431117
chr21:45431132 G
G
 A
A
 7 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(4): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0041t0001g0155
a0001c0082t0008g0053
a0004c0023t0002g0138
a0004c0023t0002g0163
 7 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(4): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03225.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+25659G>A
c.106+25659G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431132
chr21:45431180 C
C
 T
T
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.106+25707C>T
c.106+25707C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431180
chr21:45431198 C
C
 T
T
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.106+25725C>T
c.106+25725C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431198
chr21:45431318 T
T
 C
C
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+25845T>C
c.106+25845T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431318
chr21:45431330 G
G
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.106+25857G>A
c.106+25857G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431330
chr21:45431340 T
T
 TGGACCCG
others(25): Show 
TGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.106+25922_106+2595
others(36): Show 
c.106+25922_106+25953dupGGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431340
chr21:45431340 TGGACCCG
others(25): Show 
TGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA
 T
T
 1 a0001c0013t0002g0122
a0001c0013t0002g0122
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.106+25922_106+2595
others(36): Show 
c.106+25922_106+25953delGGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431340
chr21:45431345 CCGGCGGC
others(184): Show 
CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG
GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGG
CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACT
 C
C
 2 a0002c0012t0004g0199
a0030c0056t0001g0044
a0002c0012t0004g0199
a0030c0056t0001g0044
 2 HG02622.hp2
HG03486.hp2
HG02622.hp2
HG03486.hp2
 intron_variant MODIFIER c.106+25905_106+2609
others(4): Show 
c.106+25905_106+26095del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431345
chr21:45431363 GGGGCAGG
others(57): Show 
GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGG
CGGCCCAGGGGAGGT
 G
G
 1 a0001c0001t0001g0241
a0001c0001t0001g0241
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.106+25954_106+2601
others(68): Show 
c.106+25954_106+26017delTGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431363
chr21:45431427 T
T
 G
G
 142 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(139): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0247
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 142 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(139): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+25954T>G
c.106+25954T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431427
chr21:45431457 GGGGGGCA
others(24): Show 
GGGGGGCAGGCAGGACCCGGCGGCCCAGGGGA
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.106+26021_106+2605
others(35): Show 
c.106+26021_106+26051delCAGGCAGGACCCGGCGGCCCAGGGGA
GGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431457
chr21:45431459 G
G
 T
T
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.106+25986G>T
c.106+25986G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431459
chr21:45431488 A
A
 AGGGGGCA
others(57): Show 
AGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCC
GGCGGCCCAGGGGAG
 1 a0003c0015t0001g0202
a0003c0015t0001g0202
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.106+26062_106+2606
others(68): Show 
c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGCA
others(121): Show 
AGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCC
GGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGG
GGCAGGCAGGACCCGGCGGCCCAGGGGAG
 13 a0001c0002t0003g0143
a0001c0055t0003g0152
a0003c0009t0001g0167
others(10): Show 
a0001c0002t0003g0143
a0001c0055t0003g0152
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 13 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(10): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA19012.hp1
NA20905.hp2
 intron_variant MODIFIER c.106+26062_106+2606
others(132): Show 
c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGG
AC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(58): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAG
 4 a0001c0011t0001g0017
a0008c0101t0005g0027
a0036c0048t0004g0184
others(1): Show 
a0001c0011t0001g0017
a0008c0101t0005g0027
a0036c0048t0004g0184
a0037c0049t0004g0183
 4 HG02647.hp1
HG02809.hp1
HG02886.hp1
others(1): Show 
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG03453.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(69): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(122): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 7 a0001c0001t0001g0149
a0001c0004t0001g0018
a0001c0004t0001g0213
others(4): Show 
a0001c0001t0001g0149
a0001c0004t0001g0018
a0001c0004t0001g0213
a0001c0004t0016g0051
a0001c0087t0001g0055
a0001c0098t0001g0007
a0018c0095t0001g0146
 7 HG02451.hp2
HG02486.hp1
HG03041.hp2
others(4): Show 
HG02451.hp2
HG02486.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(133): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(154): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAG
 22 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0150
others(19): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0004t0001g0032
a0001c0005t0002g0239
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0035t0001g0073
a0001c0037t0001g0157
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0002c0084t0002g0212
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 22 HG01074.hp2
HG01081.hp1
HG01261.hp2
others(19): Show 
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01496.hp1
HG02080.hp1
HG02257.hp1
HG02273.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02895.hp2
HG03195.hp1
HG03453.hp2
HG03471.hp2
HG03831.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(165): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(186): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACACGGCGGCCCAGGGGAG
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(197): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACACGGC
GGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(186): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 44 a0001c0001t0001g0031
a0001c0001t0001g0253
a0001c0002t0002g0111
others(41): Show 
a0001c0001t0001g0031
a0001c0001t0001g0253
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0021t0002g0001
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
 44 HG00423.hp1
HG00544.hp2
HG00558.hp1
others(41): Show 
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02165.hp2
HG02486.hp2
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG02965.hp1
HG03209.hp1
HG03225.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18990.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19074.hp1
NA19091.hp2
NA20129.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(197): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(345): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGCA
GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC
AGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA
GGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGG
GAG
 1 a0002c0012t0004g0058
a0002c0012t0004g0058
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(356): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCA
GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC
AGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCA
GGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(250): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAG
 1 a0001c0008t0002g0268
a0001c0008t0002g0268
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(261): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(282): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0017t0002g0179
a0001c0017t0002g0179
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(293): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(314): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAG
 5 a0001c0001t0001g0175
a0001c0002t0002g0104
a0001c0002t0002g0105
others(2): Show 
a0001c0001t0001g0175
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0283
 5 NA18952.hp2
NA18961.hp1
NA18998.hp1
others(2): Show 
NA18952.hp2
NA18961.hp1
NA18998.hp1
NA19005.hp1
NA19065.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(325): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(346): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAG
 19 a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0258
others(16): Show 
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0094
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0003g0205
a0001c0061t0001g0257
a0001c0081t0003g0154
a0021c0086t0002g0176
 19 HG00280.hp1
HG00423.hp2
HG00621.hp1
others(16): Show 
HG00280.hp1
HG00423.hp2
HG00621.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG03688.hp1
HG04115.hp1
NA18959.hp1
NA18983.hp2
NA19007.hp1
NA19065.hp1
NA20300.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(357): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(378): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0006t0003g0180
a0001c0006t0003g0180
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(389): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(442): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 2 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0001t0001g0142
a0001c0002t0012g0109
 2 HG02145.hp2
HG02809.hp2
HG02145.hp2
HG02809.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(453): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(570): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAG
 8 a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
others(5): Show 
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 8 HG02258.hp1
HG02630.hp2
HG02723.hp1
others(5): Show 
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(581): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(602): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAG
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(613): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(730): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0041t0001g0155
a0001c0041t0001g0155
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(741): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(762): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG
GACCCGGCGGCCCAGGGGAG
 2 a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0023t0002g0138
a0004c0023t0002g0163
 2 HG01891.hp2
HG03225.hp1
HG01891.hp2
HG03225.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(773): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(826): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG
GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0082t0008g0053
a0001c0082t0008g0053
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(837): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG
GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(1018): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG
GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0003t0001g0145
a0001c0003t0001g0145
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(1029): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA
CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCG
GCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG
GCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGG
CCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAG
GCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCA
GGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAG
GACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGT
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(187): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0002t0002g0238
a0001c0002t0002g0238
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.106+26020_106+2602
others(198): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGGCAGGCAGGACCCGG
CGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(347): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC
CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG
GGGAG
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(358): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGGCAGGCAGGACCCGG
CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC
CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(186): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(197): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(250): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAG
 2 a0011c0040t0001g0046
a0013c0051t0001g0195
a0011c0040t0001g0046
a0013c0051t0001g0195
 2 HG02257.hp2
HG02258.hp2
HG02257.hp2
HG02258.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(261): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(122): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 2 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0009
a0001c0011t0001g0016
 2 HG02965.hp2
NA18522.hp2
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(133): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGC
others(154): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAG
 4 a0001c0001t0001g0192
a0001c0003t0001g0005
a0001c0003t0001g0193
others(1): Show 
a0001c0001t0001g0192
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0007t0002g0194
 4 HG02055.hp1
HG02055.hp2
HG02559.hp2
others(1): Show 
HG02055.hp1
HG02055.hp2
HG02559.hp2
HG03195.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(165): Show 
c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG
AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGGGGGG
others(347): Show 
AGGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGAC
CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG
GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGG
CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC
CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG
GGGAG
 1 a0001c0002t0002g0269
a0001c0002t0002g0269
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.106+26020_106+2602
others(358): Show 
c.106+26020_106+26021insGGCAGGCAGGACCCGGCGGCCCAGGG
GAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGAC
CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG
GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGG
CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGC
CCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGTGGGC
others(58): Show 
AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAG
 4 a0001c0002t0001g0080
a0001c0003t0003g0264
a0001c0004t0001g0255
others(1): Show 
a0001c0002t0001g0080
a0001c0003t0003g0264
a0001c0004t0001g0255
a0003c0009t0001g0247
 4 HG00438.hp2
HG04115.hp2
NA18969.hp2
others(1): Show 
HG00438.hp2
HG04115.hp2
NA18969.hp2
NA19088.hp2
 intron_variant MODIFIER c.106+26017_106+2601
others(69): Show 
c.106+26017_106+26018insTGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGTGGGC
others(122): Show 
AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 2 a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0005t0002g0158
a0001c0007t0002g0185
 2 HG02129.hp1
NA18966.hp1
HG02129.hp1
NA18966.hp1
 intron_variant MODIFIER c.106+26017_106+2601
others(133): Show 
c.106+26017_106+26018insTGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGG
ACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGA
GGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431488 A
A
 AGGTGGGC
others(378): Show 
AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC
CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 4 a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0002c0012t0004g0049
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03486.hp1
 intron_variant MODIFIER c.106+26017_106+2601
others(389): Show 
c.106+26017_106+26018insTGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGG
ACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGA
GGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCC
GGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGG
GGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCG
GCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCA
GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC
AGGGGAGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431488
chr21:45431504 C
C
 CCGGCGGC
others(57): Show 
CCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG
GGGGCAGGCAGGACT
 4 a0001c0002t0001g0080
a0001c0003t0003g0264
a0001c0004t0001g0255
others(1): Show 
a0001c0002t0001g0080
a0001c0003t0003g0264
a0001c0004t0001g0255
a0003c0009t0001g0247
 4 HG00438.hp2
HG04115.hp2
NA18969.hp2
others(1): Show 
HG00438.hp2
HG04115.hp2
NA18969.hp2
NA19088.hp2
 intron_variant MODIFIER c.106+26062_106+2606
others(68): Show 
c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACTCGGCGGCCCAGGGGAGGGGGGCAGGCAGGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431504
chr21:45431504 C
C
 T
T
 8 a0001c0001t0001g0192
a0001c0003t0001g0005
a0001c0003t0001g0110
others(5): Show 
a0001c0001t0001g0192
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
 8 HG01258.hp2
HG01346.hp2
HG02055.hp1
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02559.hp2
HG03195.hp2
NA18966.hp1
 intron_variant MODIFIER c.106+26031C>T
c.106+26031C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431504
chr21:45431508 C
C
 CGGCCCAG
others(89): Show 
CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
CAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACTCGGT
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+26062_106+2606
others(100): Show 
c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACTCGGTGGCCCAG
GGGAGGGGGGCAGGCAGGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431508
chr21:45431508 C
C
 CGGCCCAG
others(57): Show 
CGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGG
CAGGCAGGACTCGGT
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.106+26062_106+2606
others(68): Show 
c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACTCGGTGGCCCAGGGGAGGGGGGCAGGCAGGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431508
chr21:45431519 A
A
 AGGGGGGC
others(186): Show 
AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG
 1 a0001c0038t0004g0028
a0001c0038t0004g0028
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.106+26062_106+2606
others(197): Show 
c.106+26062_106+26063insCCGGCGGCCCAGGGGAGGGGGGCAGG
CAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAG
GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGG
ACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGA
GGGGGGGCAGGCAGGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431519
chr21:45431536 T
T
 C
C
 148 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(145): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0247
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 148 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(145): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26063T>C
c.106+26063T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431536
chr21:45431552 G
G
 GGGGGACA
others(409): Show 
GGGGGACAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCC
GGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTG
GGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCG
GCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCA
GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC
AGGGGAGGGGGACAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCA
GGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGACCCGGCGGCCCAGGG
GAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGAC
CTGGCGGCCCAGGGGAC
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.106+26083_106+2608
others(420): Show 
c.106+26083_106+26084insACAGGCAGGACCCGGCGGCCCAGGGG
AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC
CGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG
GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC
GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC
AGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGACCCGGCGGCC
CAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGC
AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG
GGAGGGGGACAGGCAGGACCTGGCGGCCCAGGGGACGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45431552
chr21:45431562 C
C
 G
G
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.106+26089C>G
c.106+26089C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431562
chr21:45431568 C
C
 T
T
 2 a0003c0046t0001g0002
a0026c0044t0001g0037
a0003c0046t0001g0002
a0026c0044t0001g0037
 2 HG00733.hp2
HG02922.hp2
HG00733.hp2
HG02922.hp2
 intron_variant MODIFIER c.106+26095C>T
c.106+26095C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431568
chr21:45431569 A
A
 C
C
 49 a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
others(46): Show 
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0008c0101t0005g0027
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 49 HG00280.hp1
HG00423.hp2
HG00621.hp1
others(46): Show 
HG00280.hp1
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+26096A>C
c.106+26096A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431569
chr21:45431614 A
A
 G
G
 3 a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
 3 HG01515.hp1
HG01517.hp1
HG03654.hp2
HG01515.hp1
HG01517.hp1
HG03654.hp2
 intron_variant MODIFIER c.106+26141A>G
c.106+26141A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431614
chr21:45431786 C
C
 T
T
 9 a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
others(6): Show 
a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 9 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(6): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+26313C>T
c.106+26313C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431786
chr21:45431801 G
G
 T
T
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.106+26328G>T
c.106+26328G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431801
chr21:45431984 A
A
 G
G
 150 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(147): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0247
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 150 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(147): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26511A>G
c.106+26511A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45431984
chr21:45432058 G
G
 A
A
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.106+26585G>A
c.106+26585G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432058
chr21:45432060 G
G
 A
A
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.106+26587G>A
c.106+26587G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432060
chr21:45432180 C
C
 G
G
 36 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(33): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0005t0002g0070
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0061t0001g0257
a0001c0081t0003g0154
a0002c0012t0004g0058
a0002c0084t0002g0212
a0008c0101t0005g0027
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 36 HG00280.hp1
HG00423.hp2
HG00621.hp1
others(33): Show 
HG00280.hp1
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02071.hp1
HG02273.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03453.hp1
HG03688.hp1
HG03831.hp1
HG04115.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+26707C>G
c.106+26707C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432180
chr21:45432236 AGCTGGG
AGCTGGG
 A
A
 127 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(124): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 127 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(124): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26776_106+2678
others(10): Show 
c.106+26776_106+26781delGCTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45432236
chr21:45432328 T
T
 C
C
 182 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(179): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 182 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(179): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26855T>C
c.106+26855T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432328
chr21:45432329 G
G
 A
A
 74 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0127
others(71): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0018c0095t0001g0146
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 74 HG00408.hp1
HG00423.hp1
HG00544.hp2
others(71): Show 
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26856G>A
c.106+26856G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432329
chr21:45432333 C
C
 T
T
 16 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(13): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0247
a0019c0096t0015g0045
 16 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(13): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02280.hp1
HG02559.hp2
HG02647.hp1
HG02965.hp2
HG03195.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA18969.hp2
NA19088.hp2
 intron_variant MODIFIER c.106+26860C>T
c.106+26860C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432333
chr21:45432345 C
C
 T
T
 132 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(129): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 132 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(129): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26872C>T
c.106+26872C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432345
chr21:45432375 T
T
 C
C
 132 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(129): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 132 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(129): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26902T>C
c.106+26902T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432375
chr21:45432400 T
T
 C
C
 132 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(129): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 132 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(129): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+26927T>C
c.106+26927T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432400
chr21:45432615 A
A
 G
G
 288 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(285): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 288 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(285): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+27142A>G
c.106+27142A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432615
chr21:45432645 G
G
 A
A
 7 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
others(4): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0145
a0001c0041t0001g0155
a0001c0082t0008g0053
a0004c0023t0002g0138
a0004c0023t0002g0163
 7 HG01891.hp2
HG02145.hp1
HG02145.hp2
others(4): Show 
HG01891.hp2
HG02145.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp1
HG03225.hp1
HG03579.hp2
 intron_variant MODIFIER c.106+27172G>A
c.106+27172G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432645
chr21:45432654 A
A
 G
G
 1 a0001c0003t0001g0221
a0001c0003t0001g0221
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.106+27181A>G
c.106+27181A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432654
chr21:45432699 C
C
 T
T
 3 a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0001t0001g0192
a0001c0003t0001g0193
a0001c0007t0002g0194
 3 HG02055.hp1
HG02559.hp2
HG03195.hp2
HG02055.hp1
HG02559.hp2
HG03195.hp2
 intron_variant MODIFIER c.106+27226C>T
c.106+27226C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432699
chr21:45432773 G
G
 C
C
 67 a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
others(64): Show 
a0001c0001t0001g0093
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0074t0004g0200
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0084t0002g0212
a0003c0009t0001g0247
a0004c0023t0002g0138
a0004c0023t0002g0163
a0008c0101t0005g0027
a0011c0040t0001g0046
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 67 HG00280.hp1
HG00423.hp2
HG00438.hp2
others(64): Show 
HG00280.hp1
HG00423.hp2
HG00438.hp2
HG00621.hp1
HG00733.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03831.hp1
HG04115.hp1
HG04115.hp2
NA18522.hp2
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18966.hp1
NA18969.hp2
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.106+27300G>C
c.106+27300G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432773
chr21:45432844 C
C
 T
T
 16 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(13): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0247
a0019c0096t0015g0045
 16 HG00438.hp2
HG01258.hp2
HG01346.hp2
others(13): Show 
HG00438.hp2
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02280.hp1
HG02559.hp2
HG02647.hp1
HG02965.hp2
HG03195.hp2
HG04115.hp2
NA18522.hp2
NA18966.hp1
NA18969.hp2
NA19088.hp2
 intron_variant MODIFIER c.106+27371C>T
c.106+27371C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432844
chr21:45432871 C
C
 T
T
 9 a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
others(6): Show 
a0001c0002t0001g0095
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 9 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(6): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+27398C>T
c.106+27398C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432871
chr21:45432910 T
T
 C
C
 181 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(178): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 181 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(178): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+27437T>C
c.106+27437T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45432910
chr21:45433064 C
C
 G
G
 76 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(73): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0238
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0018c0095t0001g0146
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 76 HG00408.hp1
HG00423.hp1
HG00544.hp2
others(73): Show 
HG00408.hp1
HG00423.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+27591C>G
c.106+27591C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433064
chr21:45433118 G
G
 A
A
 2 a0001c0001t0001g0175
a0001c0002t0002g0283
a0001c0001t0001g0175
a0001c0002t0002g0283
 2 NA18952.hp2
NA19065.hp2
NA18952.hp2
NA19065.hp2
 intron_variant MODIFIER c.106+27645G>A
c.106+27645G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433118
chr21:45433196 C
C
 T
T
 47 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(44): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0003c0009t0001g0247
a0003c0010t0006g0014
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0160
a0007c0034t0001g0141
a0009c0016t0001g0084
a0016c0042t0001g0118
a0019c0096t0015g0045
a0032c0052t0002g0077
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp2
HG02647.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp1
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+27723C>T
c.106+27723C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433196
chr21:45433241 A
A
 G
G
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.106+27768A>G
c.106+27768A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433241
chr21:45433269 C
C
 T
T
 48 a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
others(45): Show 
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0003c0009t0001g0247
a0003c0010t0006g0014
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0160
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0019c0096t0015g0045
a0032c0052t0002g0077
 48 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(45): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02559.hp2
HG02602.hp2
HG02647.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp1
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+27796C>T
c.106+27796C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433269
chr21:45433345 T
T
 C
C
 171 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(168): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0002t0001g0095
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 171 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(168): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+27872T>C
c.106+27872T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433345
chr21:45433400 G
G
 A
A
 8 a0001c0002t0001g0095
a0001c0022t0001g0021
a0001c0022t0001g0131
others(5): Show 
a0001c0002t0001g0095
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 8 HG00280.hp2
HG02258.hp1
HG02630.hp2
others(5): Show 
HG00280.hp2
HG02258.hp1
HG02630.hp2
HG02723.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.106+27927G>A
c.106+27927G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433400
chr21:45433424 G
G
 T
T
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.106+27951G>T
c.106+27951G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433424
chr21:45433504 G
G
 A
A
 46 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(43): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0080t0004g0057
a0001c0082t0008g0053
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0209
a0013c0051t0001g0195
a0018c0095t0001g0146
a0026c0044t0001g0037
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 46 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(43): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG00733.hp2
HG01123.hp1
HG01192.hp2
HG01261.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02258.hp1
HG02486.hp2
HG02630.hp2
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02922.hp2
HG02970.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03579.hp1
HG04228.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18953.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18998.hp2
NA18999.hp1
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+28031G>A
c.106+28031G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433504
chr21:45433568 T
T
 C
C
 213 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0093
others(210): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0018
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0023c0085t0002g0106
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 213 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(210): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+28095T>C
c.106+28095T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433568
chr21:45433697 G
G
 A
A
 1 a0002c0021t0002g0148
a0002c0021t0002g0148
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.106+28224G>A
c.106+28224G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433697
chr21:45433927 C
C
 T
T
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+28454C>T
c.106+28454C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433927
chr21:45433931 T
T
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+28458T>C
c.106+28458T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433931
chr21:45433962 G
G
 T
T
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+28489G>T
c.106+28489G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45433962
chr21:45434030 A
A
 AGCCAGGT
others(68): Show 
AGCCAGGTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATG
GGCCAGATGTGTGAGCAGGTGCATGG
 66 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(63): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0026
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0080t0004g0057
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0003g0219
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0013c0051t0001g0195
a0026c0044t0001g0037
a0027c0070t0001g0012
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(63): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01192.hp2
HG01258.hp2
HG01346.hp2
HG01891.hp1
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04204.hp2
HG04228.hp1
NA18747.hp2
NA18944.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp2
NA18975.hp1
NA18998.hp2
NA18999.hp1
NA19007.hp2
NA19060.hp2
NA19088.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+28612_106+2861
others(79): Show 
c.106+28612_106+28613insATGTGTGAGCAGGTGCATGGGCCAGG
TGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434030
chr21:45434036 G
G
 GTGTGTGA
others(43): Show 
GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG
A
 73 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(70): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 73 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(70): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+28612_106+2861
others(54): Show 
c.106+28612_106+28613insATGTGTGAGCAGGTGCATGGGCCAGG
TGTGTGAGCAGGTGCATGGGCCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434036
chr21:45434036 G
G
 GTGTGTGA
others(43): Show 
GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCGTGGGCCAG
A
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+28603_106+2860
others(54): Show 
c.106+28603_106+28604insGTGGGCCAGATGTGTGAGCAGGTGCA
TGGGCCAGGTGTGTGAGCAGGTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434036
chr21:45434036 G
G
 GTGTGTGA
others(143): Show 
GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCGTGGGCCAG
ATGTGTGAGCAGGTGCATGGGCCAGATGTGTGAGCAGGTGCATGGGCCAG
GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG
A
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.106+28603_106+2860
others(154): Show 
c.106+28603_106+28604insGTGGGCCAGATGTGTGAGCAGGTGCA
TGGGCCAGATGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCA
TGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAGATGTGTGAGCAGGTGCA
TGGGCCAGGTGTGTGAGCAGGTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434036
chr21:45434044 G
G
 A
A
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.106+28571G>A
c.106+28571G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434044
chr21:45434061 G
G
 GTGTGTGA
others(18): Show 
GTGTGTGAGCAGGTGCATGGGCCAGA
 17 a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0101
others(14): Show 
a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0053t0001g0244
a0003c0010t0002g0172
a0003c0010t0006g0014
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0034t0001g0141
a0016c0042t0001g0118
 17 HG00544.hp1
HG00597.hp1
HG00609.hp2
others(14): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01106.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02129.hp2
HG02135.hp1
HG03017.hp2
HG03942.hp2
NA18961.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
 intron_variant MODIFIER c.106+28612_106+2861
others(29): Show 
c.106+28612_106+28613insATGTGTGAGCAGGTGCATGGGCCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434061
chr21:45434061 G
G
 GTGTGTGA
others(118): Show 
GTGTGTGAGCAGGTGCGTGGGCCAGATGTGTGAGCAGGTGCATGGGCCAG
ATGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG
GTGTGTGAGCAGGTGCATGGGCCAGA
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.106+28603_106+2860
others(129): Show 
c.106+28603_106+28604insGTGGGCCAGATGTGTGAGCAGGTGCA
TGGGCCAGATGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCA
TGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAGATGTGTGAGCAGGTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434061
chr21:45434077 A
A
 G
G
 7 a0001c0017t0002g0179
a0002c0012t0004g0058
a0002c0083t0001g0237
others(4): Show 
a0001c0017t0002g0179
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0023c0085t0002g0106
 7 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(4): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
 intron_variant MODIFIER c.106+28604A>G
c.106+28604A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434077
chr21:45434086 G
G
 A
A
 50 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(47): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 50 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(47): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01346.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp2
NA18975.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+28613G>A
c.106+28613G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434086
chr21:45434086 G
G
 GTGTGTGA
others(43): Show 
GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG
A
 17 a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0101
others(14): Show 
a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0053t0001g0244
a0003c0010t0002g0172
a0003c0010t0006g0014
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0034t0001g0141
a0016c0042t0001g0118
 17 HG00544.hp1
HG00597.hp1
HG00609.hp2
others(14): Show 
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01106.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02129.hp2
HG02135.hp1
HG03017.hp2
HG03942.hp2
NA18961.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
 intron_variant MODIFIER c.106+28649_106+2865
others(54): Show 
c.106+28649_106+28650insGTGCATGGGCCAGATGTGTGAGCAGG
TGCATGGGCCAGGTGTGTGAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434086
chr21:45434086 G
G
 GTGTGTGA
others(68): Show 
GTGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAGGTGCATGGGCCAG
GTGTGTGAGCAGGTGCATGGGCCAGA
 2 a0003c0009t0001g0171
a0003c0045t0006g0242
a0003c0009t0001g0171
a0003c0045t0006g0242
 2 NA18969.hp1
NA18983.hp1
NA18969.hp1
NA18983.hp1
 intron_variant MODIFIER c.106+28649_106+2865
others(79): Show 
c.106+28649_106+28650insGTGCATGGGCCAGGTGTGTGAGCAGG
TGCATGGGCCAGATGTGTGAGCAGGTGCATGGGCCAGGTGTGTGAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434086
chr21:45434197 CG
CG
 C
C
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+28730delG
c.106+28730delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434197
chr21:45434198 G
G
 A
A
 2 a0009c0016t0002g0252
a0025c0050t0002g0108
a0009c0016t0002g0252
a0025c0050t0002g0108
 2 HG03654.hp1
HG04184.hp1
HG03654.hp1
HG04184.hp1
 intron_variant MODIFIER c.106+28725G>A
c.106+28725G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434198
chr21:45434203 G
G
 T
T
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+28730G>T
c.106+28730G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434203
chr21:45434311 C
C
 T
T
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+28838C>T
c.106+28838C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434311
chr21:45434454 C
C
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+28981C>T
c.106+28981C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434454
chr21:45434492 G
G
 A
A
 1 a0001c0006t0003g0259
a0001c0006t0003g0259
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.106+29019G>A
c.106+29019G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434492
chr21:45434529 C
C
 A
A
 55 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(52): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 55 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(52): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+29056C>A
c.106+29056C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434529
chr21:45434620 TCTC
TCTC
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+29151_106+2915
others(7): Show 
c.106+29151_106+29153delCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45434620
chr21:45434657 T
T
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+29184T>C
c.106+29184T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434657
chr21:45434671 T
T
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+29198T>C
c.106+29198T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434671
chr21:45434774 G
G
 A
A
 26 a0001c0004t0001g0026
a0001c0013t0002g0206
a0001c0013t0002g0207
others(23): Show 
a0001c0004t0001g0026
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 26 HG00099.hp1
HG00642.hp2
HG01074.hp2
others(23): Show 
HG00099.hp1
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02615.hp2
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp1
HG03540.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.106+29301G>A
c.106+29301G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434774
chr21:45434789 CA
CA
 C
C
 55 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(52): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 55 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(52): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+29317delA
c.106+29317delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434789
chr21:45434802 C
C
 A
A
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.106+29329C>A
c.106+29329C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434802
chr21:45434840 G
G
 A
A
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+29367G>A
c.106+29367G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434840
chr21:45434891 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.106+29418G>A
c.106+29418G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434891
chr21:45434952 G
G
 A
A
 77 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(74): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 77 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(74): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+29479G>A
c.106+29479G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434952
chr21:45434978 G
G
 A
A
 1 a0029c0071t0002g0134
a0029c0071t0002g0134
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.106+29505G>A
c.106+29505G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434978
chr21:45434978 G
G
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+29505G>C
c.106+29505G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45434978
chr21:45435013 G
G
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+29540G>T
c.106+29540G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435013
chr21:45435016 G
G
 A
A
 1 a0003c0009t0001g0167
a0003c0009t0001g0167
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.106+29543G>A
c.106+29543G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435016
chr21:45435068 T
T
 C
C
 145 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(142): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 145 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(142): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+29595T>C
c.106+29595T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435068
chr21:45435307 G
G
 GGGGGTGG
others(29): Show 
GGGGGTGGGAAGAGGGAGGAGGAGGAAGGGGGGGTGT
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+29842_106+2984
others(40): Show 
c.106+29842_106+29843insAAGAGGGAGGAGGAGGAAGGGGGGGT
GTGGGGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45435307
chr21:45435439 C
C
 T
T
 7 a0001c0017t0002g0179
a0002c0012t0004g0058
a0002c0083t0001g0237
others(4): Show 
a0001c0017t0002g0179
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0023c0085t0002g0106
 7 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(4): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
 intron_variant MODIFIER c.106+29966C>T
c.106+29966C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435439
chr21:45435483 A
A
 G
G
 151 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(148): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 151 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(148): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.106+30010A>G
c.106+30010A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435483
chr21:45435498 G
G
 A
A
 3 a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 3 HG01891.hp2
HG02145.hp1
HG03225.hp1
HG01891.hp2
HG02145.hp1
HG03225.hp1
 intron_variant MODIFIER c.106+30025G>A
c.106+30025G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435498
chr21:45435678 C
C
 T
T
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+30205C>T
c.106+30205C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435678
chr21:45435756 T
T
 C
C
 19 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(16): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 19 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(16): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+30283T>C
c.106+30283T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435756
chr21:45435864 T
T
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.106+30391T>A
c.106+30391T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435864
chr21:45435864 T
T
 G
G
 18 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(15): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
 18 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(15): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.106+30391T>G
c.106+30391T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435864
chr21:45435896 G
G
 A
A
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.106+30423G>A
c.106+30423G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435896
chr21:45435927 C
C
 T
T
 3 a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0047t0001g0069
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0047t0001g0069
 3 HG02683.hp1
HG04228.hp1
NA20905.hp2
HG02683.hp1
HG04228.hp1
NA20905.hp2
 intron_variant MODIFIER c.106+30454C>T
c.106+30454C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45435927
chr21:45436134 G
G
 C
C
 1 a0016c0042t0001g0118
a0016c0042t0001g0118
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.106+30661G>C
c.106+30661G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436134
chr21:45436171 C
C
 T
T
 19 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(16): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 19 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(16): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+30698C>T
c.106+30698C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436171
chr21:45436395 G
G
 A
A
 19 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(16): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 19 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(16): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.106+30922G>A
c.106+30922G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436395
chr21:45436409 A
A
 G
G
 4 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
others(1): Show 
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.106+30936A>G
c.106+30936A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436409
chr21:45436563 C
C
 A
A
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.106+31090C>A
c.106+31090C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436563
chr21:45436580 G
G
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.106+31107G>A
c.106+31107G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436580
chr21:45436714 G
G
 C
C
 76 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(73): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 76 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(73): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.106+31241G>C
c.106+31241G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436714
chr21:45436780 C
C
 T
T
 1 a0001c0005t0002g0232
a0001c0005t0002g0232
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.106+31307C>T
c.106+31307C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436780
chr21:45436927 C
C
 T
T
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.107-31315C>T
c.107-31315C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436927
chr21:45436941 C
C
 G
G
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-31301C>G
c.107-31301C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436941
chr21:45436994 C
C
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-31248C>T
c.107-31248C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45436994
chr21:45437103 G
G
 GCA
GCA
 68 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(65): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 68 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-31131_107-3113
others(6): Show 
c.107-31131_107-31130dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437103
chr21:45437107 A
A
 ACACACAC
others(1): Show 
ACACACACT
 15 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(12): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 15 HG01258.hp2
HG01346.hp2
HG02451.hp2
others(12): Show 
HG01258.hp2
HG01346.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-31130_107-3112
others(12): Show 
c.107-31130_107-31129insACTCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437107
chr21:45437108 CACACTCA
others(130): Show 
CACACTCACACACAGACACACAGGCACTCTCCACACACACTCACACTCAG
ACACAGGCACTCTCCTGCACACACACTCACACAGACACACAGGCACTCTC
CTGCACACACACACACAGACACACAGGCACTCTCCTGT
 C
C
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-31129_107-3099
others(4): Show 
c.107-31129_107-30993del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437108
chr21:45437111 ACTCACAC
others(240): Show 
ACTCACACACAGACACACAGGCACTCTCCACACACACTCACACTCAGACA
CAGGCACTCTCCTGCACACACACTCACACAGACACACAGGCACTCTCCTG
CACACACACACACAGACACACAGGCACTCTCCTGTACACACACACACTCA
CACACTCAGACACACAGGCACTCTCCTGCACACACACACACTCACACAGG
CACTCTCCTGCACACACACACACTCAGACACACAGGCACTCTCCTGCG
 A
A
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-31129_107-3088
others(4): Show 
c.107-31129_107-30883del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437111
chr21:45437113 T
T
 A
A
 3 a0013c0051t0001g0195
a0018c0095t0001g0146
a0019c0096t0015g0045
a0013c0051t0001g0195
a0018c0095t0001g0146
a0019c0096t0015g0045
 3 HG02257.hp2
HG02280.hp1
NA21309.hp1
HG02257.hp2
HG02280.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-31129T>A
c.107-31129T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437113
chr21:45437113 T
T
 TCACACTC
others(1): Show 
TCACACTCA
 25 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(22): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 25 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(22): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-31124_107-3112
others(12): Show 
c.107-31124_107-31123insTCACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437113
chr21:45437114 CACACACA
others(198): Show 
CACACACAGACACACAGGCACTCTCCACACACACTCACACTCAGACACAG
GCACTCTCCTGCACACACACTCACACAGACACACAGGCACTCTCCTGCAC
ACACACACACAGACACACAGGCACTCTCCTGTACACACACACACTCACAC
ACTCAGACACACAGGCACTCTCCTGCACACACACACACTCACACAGGCAC
TCTCCT
 C
C
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-31127_107-3092
others(4): Show 
c.107-31127_107-30923del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437114
chr21:45437115 A
A
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-31127A>T
c.107-31127A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437115
chr21:45437117 ACACAGAC
others(388): Show 
ACACAGACACACAGGCACTCTCCACACACACTCACACTCAGACACAGGCA
CTCTCCTGCACACACACTCACACAGACACACAGGCACTCTCCTGCACACA
CACACACAGACACACAGGCACTCTCCTGTACACACACACACTCACACACT
CAGACACACAGGCACTCTCCTGCACACACACACACTCACACAGGCACTCT
CCTGCACACACACACACTCAGACACACAGGCACTCTCCTGCGCACACACA
CACACTCAGACACACAGGCACTCTCCTGCACACACACACTCACACTCAGA
CACACAGGCACTCTCCTGCACACACACACTCACTCACAGACAGACACACA
GGCACTCTCCTGCACACACTCACACTCACACACAGGCACTCTCCTG
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-31120_107-3072
others(4): Show 
c.107-31120_107-30726del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437117
chr21:45437119 A
A
 ACACACT
ACACACT
 66 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(63): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-31121_107-3112
others(10): Show 
c.107-31121_107-31120insCACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437119
chr21:45437119 A
A
 ACT
ACT
 15 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(12): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 15 HG01258.hp2
HG01346.hp2
HG02451.hp2
others(12): Show 
HG01258.hp2
HG01346.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-31122_107-3112
others(6): Show 
c.107-31122_107-31121insTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437119
chr21:45437119 A
A
 T
T
 25 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(22): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 25 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(22): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-31123A>T
c.107-31123A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437119
chr21:45437122 G
G
 C
C
 2 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0085
a0001c0003t0001g0086
 2 HG00735.hp2
HG01106.hp1
HG00735.hp2
HG01106.hp1
 intron_variant MODIFIER c.107-31120G>C
c.107-31120G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437122
chr21:45437138 C
C
 CCTG
CCTG
 109 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0001g0095
others(106): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0082t0008g0053
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 109 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(106): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01891.hp1
HG01943.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18998.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19060.hp2
NA19064.hp2
NA19088.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-31103_107-3110
others(7): Show 
c.107-31103_107-31102insTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437138
chr21:45437184 T
T
 A
A
 1 a0001c0002t0002g0047
a0001c0002t0002g0047
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.107-31058T>A
c.107-31058T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437184
chr21:45437186 A
A
 ACACT
ACACT
 82 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(79): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 82 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(79): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-31053_107-3105
others(8): Show 
c.107-31053_107-31052insTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437186
chr21:45437188 A
A
 ACT
ACT
 27 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(24): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0005c0060t0001g0063
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 27 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(24): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02451.hp2
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03209.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-31053_107-3105
others(6): Show 
c.107-31053_107-31052insTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437188
chr21:45437191 G
G
 C
C
 26 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(23): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0005c0060t0001g0063
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 26 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(23): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03209.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-31051G>C
c.107-31051G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437191
chr21:45437193 C
C
 G
G
 25 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(22): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 25 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(22): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-31049C>G
c.107-31049C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437193
chr21:45437225 G
G
 GACAC
GACAC
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-31013_107-3101
others(8): Show 
c.107-31013_107-31010dupCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437225
chr21:45437225 GAC
GAC
 G
G
 68 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(65): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 68 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-31011_107-3101
others(6): Show 
c.107-31011_107-31010delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437225
chr21:45437227 C
C
 G
G
 1 a0003c0010t0002g0151
a0003c0010t0002g0151
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.107-31015C>G
c.107-31015C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437227
chr21:45437245 TAC
TAC
 T
T
 66 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(63): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30986_107-3098
others(6): Show 
c.107-30986_107-30985delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437245
chr21:45437245 TACACACA
others(3): Show 
TACACACACAC
 T
T
 5 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(2): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0005c0060t0001g0063
a0030c0056t0001g0044
 5 HG02145.hp2
HG02809.hp2
HG02818.hp2
others(2): Show 
HG02145.hp2
HG02809.hp2
HG02818.hp2
HG03209.hp1
HG03486.hp2
 intron_variant MODIFIER c.107-30994_107-3098
others(14): Show 
c.107-30994_107-30985delACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437245
chr21:45437250 ACACACAC
others(1): Show 
ACACACACT
 A
A
 11 a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
others(8): Show 
a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0004c0099t0003g0030
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 11 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(8): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG01243.hp1
HG02895.hp2
HG02922.hp1
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-30981_107-3097
others(12): Show 
c.107-30981_107-30974delCACACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437250
chr21:45437252 A
A
 T
T
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30990A>T
c.107-30990A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437252
chr21:45437258 T
T
 A
A
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.107-30984T>A
c.107-30984T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437258
chr21:45437269 GAC
GAC
 G
G
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30967_107-3096
others(6): Show 
c.107-30967_107-30966delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437269
chr21:45437288 GCA
GCA
 G
G
 3 a0001c0002t0002g0047
a0001c0005t0002g0158
a0001c0019t0003g0065
a0001c0002t0002g0047
a0001c0005t0002g0158
a0001c0019t0003g0065
 3 HG01891.hp1
HG02735.hp2
NA18966.hp1
HG01891.hp1
HG02735.hp2
NA18966.hp1
 intron_variant MODIFIER c.107-30942_107-3094
others(6): Show 
c.107-30942_107-30941delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437288
chr21:45437288 GCACA
GCACA
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30944_107-3094
others(8): Show 
c.107-30944_107-30941delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437288
chr21:45437296 A
A
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-30946A>T
c.107-30946A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437296
chr21:45437298 A
A
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-30944A>T
c.107-30944A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437298
chr21:45437298 ACACT
ACACT
 A
A
 15 a0001c0055t0003g0152
a0003c0009t0001g0054
a0003c0009t0001g0167
others(12): Show 
a0001c0055t0003g0152
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 15 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(12): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30940_107-3093
others(8): Show 
c.107-30940_107-30937delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437298
chr21:45437300 A
A
 T
T
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30942A>T
c.107-30942A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437300
chr21:45437302 T
T
 A
A
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30940T>A
c.107-30940T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437302
chr21:45437303 C
C
 G
G
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30939C>G
c.107-30939C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437303
chr21:45437320 G
G
 GCA
GCA
 3 a0001c0003t0001g0221
a0001c0007t0002g0220
a0006c0026t0003g0219
a0001c0003t0001g0221
a0001c0007t0002g0220
a0006c0026t0003g0219
 3 HG00099.hp2
HG01106.hp2
homoSapiens_chm13v2.hp1
HG00099.hp2
HG01106.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30910_107-3090
others(6): Show 
c.107-30910_107-30909dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437320
chr21:45437320 G
G
 T
T
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30922G>T
c.107-30922G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437320
chr21:45437320 GCA
GCA
 G
G
 7 a0001c0017t0002g0179
a0002c0012t0004g0058
a0002c0083t0001g0237
others(4): Show 
a0001c0017t0002g0179
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0023c0085t0002g0106
 7 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(4): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
 intron_variant MODIFIER c.107-30910_107-3090
others(6): Show 
c.107-30910_107-30909delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437320
chr21:45437325 CACACACA
others(5): Show 
CACACACACTCAG
 C
C
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30909_107-3089
others(16): Show 
c.107-30909_107-30898delCTCAGACACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437325
chr21:45437326 A
A
 T
T
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30916A>T
c.107-30916A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437326
chr21:45437327 CACACACT
others(3): Show 
CACACACTCAG
 C
C
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-30908_107-3089
others(14): Show 
c.107-30908_107-30899delTCAGACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437327
chr21:45437328 A
A
 ACT
ACT
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30913_107-3091
others(6): Show 
c.107-30913_107-30912insTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437328
chr21:45437334 T
T
 TCA
TCA
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30907_107-3090
others(6): Show 
c.107-30907_107-30906dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437334
chr21:45437334 TCAGA
TCAGA
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30905_107-3090
others(8): Show 
c.107-30905_107-30902delGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437334
chr21:45437334 TCAGACAC
others(175): Show 
TCAGACACACAGGCACTCTCCTGCGCACACACACACACTCAGACACACAG
GCACTCTCCTGCACACACACACTCACACTCAGACACACAGGCACTCTCCT
GCACACACACACTCACTCACAGACAGACACACAGGCACTCTCCTGCACAC
ACTCACACTCACACACAGGCACTCTCCTGCACA
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-30905_107-3072
others(4): Show 
c.107-30905_107-30724del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437334
chr21:45437355 T
T
 TGC
TGC
 44 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(41): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30884_107-3088
others(6): Show 
c.107-30884_107-30883dupGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437355
chr21:45437355 TGC
TGC
 T
T
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30884_107-3088
others(6): Show 
c.107-30884_107-30883delGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437355
chr21:45437357 C
C
 T
T
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30885C>T
c.107-30885C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437357
chr21:45437358 G
G
 A
A
 17 a0002c0020t0003g0156
a0003c0009t0001g0054
a0003c0009t0001g0167
others(14): Show 
a0002c0020t0003g0156
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0057t0002g0035
a0026c0044t0001g0037
 17 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(14): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
HG06807.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19043.hp1
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30884G>A
c.107-30884G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437358
chr21:45437358 G
G
 GCA
GCA
 26 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(23): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 26 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(23): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03195.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30872_107-3087
others(6): Show 
c.107-30872_107-30871dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437358
chr21:45437360 A
A
 G
G
 16 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0004t0001g0255
others(13): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0004t0001g0255
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0036c0048t0004g0184
a0037c0049t0004g0183
 16 HG00438.hp2
HG02055.hp2
HG02451.hp2
others(13): Show 
HG00438.hp2
HG02055.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30882A>G
c.107-30882A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437360
chr21:45437362 A
A
 G
G
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30880A>G
c.107-30880A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437362
chr21:45437363 C
C
 T
T
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.107-30879C>T
c.107-30879C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437363
chr21:45437364 A
A
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30878A>T
c.107-30878A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437364
chr21:45437368 A
A
 T
T
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30874A>T
c.107-30874A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437368
chr21:45437372 T
T
 A
A
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30870T>A
c.107-30870T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437372
chr21:45437372 TCAGA
TCAGA
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30867_107-3086
others(8): Show 
c.107-30867_107-30864delGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437372
chr21:45437375 G
G
 C
C
 1 a0001c0003t0001g0005
a0001c0003t0001g0005
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.107-30867G>C
c.107-30867G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437375
chr21:45437376 A
A
 T
T
 1 a0001c0003t0001g0005
a0001c0003t0001g0005
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.107-30866A>T
c.107-30866A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437376
chr21:45437386 ACT
ACT
 A
A
 3 a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
 3 HG00323.hp2
HG00735.hp1
HG01255.hp2
HG00323.hp2
HG00735.hp1
HG01255.hp2
 intron_variant MODIFIER c.107-30852_107-3085
others(6): Show 
c.107-30852_107-30851delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437386
chr21:45437395 C
C
 T
T
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30847C>T
c.107-30847C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437395
chr21:45437404 A
A
 T
T
 2 a0001c0003t0001g0043
a0018c0095t0001g0146
a0001c0003t0001g0043
a0018c0095t0001g0146
 2 HG02602.hp2
NA21309.hp1
HG02602.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-30838A>T
c.107-30838A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437404
chr21:45437404 ACT
ACT
 A
A
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
a0036c0048t0004g0184
a0037c0049t0004g0183
 6 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(3): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.107-30836_107-3083
others(6): Show 
c.107-30836_107-30835delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437404
chr21:45437406 T
T
 A
A
 2 a0001c0003t0001g0043
a0018c0095t0001g0146
a0001c0003t0001g0043
a0018c0095t0001g0146
 2 HG02602.hp2
NA21309.hp1
HG02602.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-30836T>A
c.107-30836T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437406
chr21:45437410 A
A
 T
T
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30832A>T
c.107-30832A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437410
chr21:45437411 C
C
 G
G
 2 a0002c0020t0003g0156
a0004c0057t0002g0035
a0002c0020t0003g0156
a0004c0057t0002g0035
 2 HG06807.hp2
NA19043.hp1
HG06807.hp2
NA19043.hp1
 intron_variant MODIFIER c.107-30831C>G
c.107-30831C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437411
chr21:45437412 T
T
 A
A
 3 a0002c0020t0003g0156
a0004c0057t0002g0035
a0018c0095t0001g0146
a0002c0020t0003g0156
a0004c0057t0002g0035
a0018c0095t0001g0146
 3 HG06807.hp2
NA19043.hp1
NA21309.hp1
HG06807.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30830T>A
c.107-30830T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437412
chr21:45437415 GAC
GAC
 G
G
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30821_107-3082
others(6): Show 
c.107-30821_107-30820delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437415
chr21:45437417 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30825C>G
c.107-30825C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437417
chr21:45437433 TGCAC
TGCAC
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-30808_107-3080
others(8): Show 
c.107-30808_107-30805delGCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437433
chr21:45437434 G
G
 GCA
GCA
 39 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0043
others(36): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0013c0051t0001g0195
a0026c0044t0001g0037
a0030c0056t0001g0044
a0036c0048t0004g0184
a0037c0049t0004g0183
 39 HG00544.hp1
HG00733.hp2
HG01167.hp2
others(36): Show 
HG00544.hp1
HG00733.hp2
HG01167.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30798_107-3079
others(6): Show 
c.107-30798_107-30797dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437434
chr21:45437440 ACACACTC
others(205): Show 
ACACACTCACTCACAGACAGACACACAGGCACTCTCCTGCACACACTCAC
ACTCACACACAGGCACTCTCCTGCACACACACACTCAGACACACAGGCAC
TCTCCTGCACACACACACACACAGACACAGGCACTCTCCTGTACACACAC
ACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACTCACAC
AGGCACTCTCCTG
 A
A
 3 a0011c0040t0001g0046
a0011c0040t0001g0076
a0020c0094t0011g0075
a0011c0040t0001g0046
a0011c0040t0001g0076
a0020c0094t0011g0075
 3 HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
 intron_variant MODIFIER c.107-30796_107-3058
others(4): Show 
c.107-30796_107-30585del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437440
chr21:45437440 ACACACTC
others(367): Show 
ACACACTCACTCACAGACAGACACACAGGCACTCTCCTGCACACACTCAC
ACTCACACACAGGCACTCTCCTGCACACACACACTCAGACACACAGGCAC
TCTCCTGCACACACACACACACAGACACAGGCACTCTCCTGTACACACAC
ACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACTCACAC
AGGCACTCTCCTGCACACACACACACTCAGACACACAGGCACTCTCCTGC
ACACACACACACACACTCAGACACACAGGCACTCTCCTGCACACACACAC
TCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTCACTCAC
ACACAGACACACAGGCACTCTCCTG
 A
A
 1 a0011c0104t0002g0003
a0011c0104t0002g0003
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.107-30796_107-3042
others(4): Show 
c.107-30796_107-30423del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437440
chr21:45437442 A
A
 T
T
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-30800A>T
c.107-30800A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437442
chr21:45437442 ACACT
ACACT
 A
A
 3 a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0003t0001g0101
a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0003t0001g0101
 3 HG03098.hp2
HG04228.hp2
NA18961.hp2
HG03098.hp2
HG04228.hp2
NA18961.hp2
 intron_variant MODIFIER c.107-30792_107-3078
others(8): Show 
c.107-30792_107-30789delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437442
chr21:45437443 CACTCACT
others(9): Show 
CACTCACTCACAGACAG
 C
C
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-30796_107-3078
others(20): Show 
c.107-30796_107-30781delTCACTCACAGACAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437443
chr21:45437444 A
A
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30798A>T
c.107-30798A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437444
chr21:45437444 ACT
ACT
 A
A
 6 a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0193
others(3): Show 
a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0193
a0004c0057t0002g0035
a0004c0100t0001g0039
a0027c0070t0001g0012
 6 HG02055.hp2
HG02257.hp1
HG02818.hp2
others(3): Show 
HG02055.hp2
HG02257.hp1
HG02818.hp2
HG03098.hp1
HG03195.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-30796_107-3079
others(6): Show 
c.107-30796_107-30795delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437444
chr21:45437446 T
T
 A
A
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30796T>A
c.107-30796T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437446
chr21:45437451 CACAG
CACAG
 C
C
 8 a0001c0001t0001g0103
a0001c0002t0002g0231
a0001c0082t0008g0053
others(5): Show 
a0001c0001t0001g0103
a0001c0002t0002g0231
a0001c0082t0008g0053
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0022c0068t0010g0004
a0024c0066t0010g0066
 8 HG02132.hp2
HG02559.hp1
HG02630.hp1
others(5): Show 
HG02132.hp2
HG02559.hp1
HG02630.hp1
HG02818.hp1
HG02895.hp1
HG02895.hp2
NA18995.hp2
NA19240.hp2
 intron_variant MODIFIER c.107-30783_107-3078
others(8): Show 
c.107-30783_107-30780delGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437451
chr21:45437452 ACAGACAG
others(165): Show 
ACAGACAGACACACAGGCACTCTCCTGCACACACTCACACTCACACACAG
GCACTCTCCTGCACACACACACTCAGACACACAGGCACTCTCCTGCACAC
ACACACACACAGACACAGGCACTCTCCTGTACACACACACACTCACACAC
TCAGACACACAGGCACTCTCCTG
 A
A
 11 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0004t0001g0213
a0001c0041t0001g0155
a0001c0087t0001g0055
a0004c0023t0002g0138
a0004c0023t0002g0163
a0028c0097t0001g0036
 11 HG01891.hp2
HG02145.hp1
HG02486.hp2
others(8): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
NA19043.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30787_107-3061
others(4): Show 
c.107-30787_107-30616del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437452
chr21:45437453 CAG
CAG
 C
C
 9 a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
others(6): Show 
a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
a0018c0095t0001g0146
 9 HG02451.hp2
HG02572.hp1
HG02602.hp2
others(6): Show 
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-30787_107-3078
others(6): Show 
c.107-30787_107-30786delGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437453
chr21:45437454 A
A
 ACT
ACT
 8 a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
others(5): Show 
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 8 HG01261.hp2
HG01496.hp1
HG02451.hp1
others(5): Show 
HG01261.hp2
HG01496.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-30788_107-3078
others(6): Show 
c.107-30788_107-30787insCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437454
chr21:45437454 A
A
 T
T
 41 a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
others(38): Show 
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
 41 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(38): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
 intron_variant MODIFIER c.107-30788A>T
c.107-30788A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437454
chr21:45437455 G
G
 A
A
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.107-30787G>A
c.107-30787G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437455
chr21:45437455 G
G
 C
C
 49 a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
others(46): Show 
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0063t0001g0144
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0031c0092t0011g0190
 49 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(46): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03225.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.107-30787G>C
c.107-30787G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437455
chr21:45437456 A
A
 ACACACAG
others(25): Show 
ACACACAGGCACTCTCCTGCACACACTCACACT
 3 a0001c0017t0002g0179
a0001c0054t0002g0201
a0004c0099t0003g0030
a0001c0017t0002g0179
a0001c0054t0002g0201
a0004c0099t0003g0030
 3 HG00733.hp1
HG01243.hp1
HG02922.hp1
HG00733.hp1
HG01243.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-30784_107-3078
others(36): Show 
c.107-30784_107-30783insCACAGGCACTCTCCTGCACACACTCA
CACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437456
chr21:45437458 A
A
 T
T
 1 a0001c0003t0001g0043
a0001c0003t0001g0043
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.107-30784A>T
c.107-30784A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437458
chr21:45437459 G
G
 C
C
 4 a0001c0003t0001g0043
a0001c0017t0002g0179
a0001c0054t0002g0201
others(1): Show 
a0001c0003t0001g0043
a0001c0017t0002g0179
a0001c0054t0002g0201
a0004c0099t0003g0030
 4 HG00733.hp1
HG01243.hp1
HG02602.hp2
others(1): Show 
HG00733.hp1
HG01243.hp1
HG02602.hp2
HG02922.hp1
 intron_variant MODIFIER c.107-30783G>C
c.107-30783G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437459
chr21:45437460 ACACACAG
others(167): Show 
ACACACAGGCACTCTCCTGCACACACTCACACTCACACACAGGCACTCTC
CTGCACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACAC
ACAGACACAGGCACTCTCCTGTACACACACACACTCACACACTCAGACAC
ACAGGCACTCTCCTGCACACACACT
 A
A
 33 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
others(30): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
 33 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(30): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02273.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
 intron_variant MODIFIER c.107-30756_107-3058
others(4): Show 
c.107-30756_107-30583del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437460
chr21:45437463 C
C
 CACAGGCA
others(21): Show 
CACAGGCACTCTCCTGCACACACACACAG
 2 a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0001
a0002c0021t0002g0148
 2 HG02965.hp1
HG03041.hp1
HG02965.hp1
HG03041.hp1
 intron_variant MODIFIER c.107-30757_107-3075
others(32): Show 
c.107-30757_107-30756insACACAGACAGGCACTCTCCTGCACAC
AC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437463
chr21:45437463 C
C
 CACAGGCA
others(23): Show 
CACAGGCACTCTCCTGCACACACTCACACAG
 2 a0001c0013t0014g0210
a0029c0071t0002g0134
a0001c0013t0014g0210
a0029c0071t0002g0134
 2 HG00642.hp2
HG01192.hp2
HG00642.hp2
HG01192.hp2
 intron_variant MODIFIER c.107-30751_107-3075
others(34): Show 
c.107-30751_107-30750insAGACAGGCACTCTCCTGCACACACTC
ACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437463
chr21:45437463 C
C
 CACAGGCA
others(29): Show 
CACAGGCACTCTCCTGCACACACTCACACTCACACAG
 2 a0002c0012t0004g0199
a0005c0058t0001g0165
a0002c0012t0004g0199
a0005c0058t0001g0165
 2 HG02622.hp2
NA19057.hp1
HG02622.hp2
NA19057.hp1
 intron_variant MODIFIER c.107-30744_107-3074
others(40): Show 
c.107-30744_107-30743insGACAGGCACTCTCCTGCACACACTCA
CACTCACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437463
chr21:45437463 C
C
 G
G
 6 a0001c0003t0001g0043
a0001c0017t0002g0179
a0001c0054t0002g0201
others(3): Show 
a0001c0003t0001g0043
a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0020t0003g0156
a0004c0057t0002g0035
a0004c0099t0003g0030
 6 HG00733.hp1
HG01243.hp1
HG02602.hp2
others(3): Show 
HG00733.hp1
HG01243.hp1
HG02602.hp2
HG02922.hp1
HG06807.hp2
NA19043.hp1
 intron_variant MODIFIER c.107-30779C>G
c.107-30779C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437463
chr21:45437479 C
C
 T
T
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30763C>T
c.107-30763C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437479
chr21:45437480 ACACACTC
others(59): Show 
ACACACTCACACTCACACACAGGCACTCTCCTGCACACACACACTCAGAC
ACACAGGCACTCTCCTG
 A
A
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.107-30756_107-3069
others(70): Show 
c.107-30756_107-30691delTCACACTCACACACAGGCACTCTCCT
GCACACACACACTCAGACACACAGGCACTCTCCTGCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437480
chr21:45437481 C
C
 CACACACT
others(55): Show 
CACACACTCACACAGACAGGCACTCTCCTGCACACACTCACACACACACA
GGCACTCTCCTGG
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.107-30757_107-3075
others(66): Show 
c.107-30757_107-30756insACTCACACAGACAGGCACTCTCCTGC
ACACACTCACACACACACAGGCACTCTCCTGGACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437481
chr21:45437481 C
C
 CACACACT
others(57): Show 
CACACACTCACACAGACAGGCACTCTCCTGCACACACTCACACTCACACA
CAGGCACTCTCCTGG
 2 a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0001g0120
a0001c0001t0001g0128
 2 HG01081.hp2
HG01243.hp2
HG01081.hp2
HG01243.hp2
 intron_variant MODIFIER c.107-30757_107-3075
others(68): Show 
c.107-30757_107-30756insACTCACACAGACAGGCACTCTCCTGC
ACACACTCACACTCACACACAGGCACTCTCCTGGACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437481
chr21:45437484 ACT
ACT
 A
A
 5 a0003c0009t0001g0171
a0003c0015t0001g0168
a0003c0015t0001g0189
others(2): Show 
a0003c0009t0001g0171
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
 5 NA18964.hp2
NA18969.hp1
NA18975.hp1
others(2): Show 
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
 intron_variant MODIFIER c.107-30756_107-3075
others(6): Show 
c.107-30756_107-30755delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437484
chr21:45437484 ACTCACAC
others(21): Show 
ACTCACACTCACACACAGGCACTCTCCTG
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30756_107-3072
others(32): Show 
c.107-30756_107-30729delTCACACTCACACACAGGCACTCTCCT
GC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437484
chr21:45437486 T
T
 A
A
 15 a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0001g0150
others(12): Show 
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0001g0150
a0001c0002t0001g0024
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 15 HG00544.hp2
HG01081.hp2
HG01243.hp2
others(12): Show 
HG00544.hp2
HG01081.hp2
HG01243.hp2
HG01261.hp2
HG01496.hp1
HG02165.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG03710.hp1
HG06807.hp1
NA18612.hp2
NA18954.hp2
NA19240.hp1
 intron_variant MODIFIER c.107-30756T>A
c.107-30756T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437486
chr21:45437486 T
T
 TCACACAG
others(51): Show 
TCACACAGACAGGCACTCTCCTGCACACACTCACACACACAGGCACTCTC
CTGCACACA
 2 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0001g0010
a0002c0020t0001g0011
 2 HG01074.hp2
HG01081.hp1
HG01074.hp2
HG01081.hp1
 intron_variant MODIFIER c.107-30751_107-3075
others(62): Show 
c.107-30751_107-30750insAGACAGGCACTCTCCTGCACACACTC
ACACACACAGGCACTCTCCTGCACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437486
chr21:45437486 T
T
 TCACACAG
others(55): Show 
TCACACAGACAGGCACTCTCCTGCACACACTCACACTCACACACAGGCAC
TCTCCTGCACACA
 17 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(14): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 17 HG00099.hp1
HG00280.hp2
HG01123.hp1
others(14): Show 
HG00099.hp1
HG00280.hp2
HG01123.hp1
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02970.hp1
HG03471.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30751_107-3075
others(66): Show 
c.107-30751_107-30750insAGACAGGCACTCTCCTGCACACACTC
ACACTCACACACAGGCACTCTCCTGCACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437486
chr21:45437492 T
T
 A
A
 12 a0001c0001t0001g0150
a0001c0004t0001g0013
a0001c0004t0001g0018
others(9): Show 
a0001c0001t0001g0150
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 12 HG00544.hp2
HG01261.hp2
HG01496.hp1
others(9): Show 
HG00544.hp2
HG01261.hp2
HG01496.hp1
HG02165.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA18612.hp2
NA18954.hp2
NA19240.hp1
 intron_variant MODIFIER c.107-30750T>A
c.107-30750T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437492
chr21:45437493 C
C
 CAG
CAG
 33 a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0001g0150
others(30): Show 
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0001g0150
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0004c0091t0001g0056
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 33 HG00099.hp1
HG00280.hp2
HG00544.hp2
others(30): Show 
HG00099.hp1
HG00280.hp2
HG00544.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01243.hp2
HG01261.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02165.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02723.hp1
HG02970.hp1
HG03225.hp2
HG03471.hp1
HG03710.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18954.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.107-30748_107-3074
others(6): Show 
c.107-30748_107-30747insGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437493
chr21:45437493 C
C
 G
G
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.107-30749C>G
c.107-30749C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437493
chr21:45437497 C
C
 CAG
CAG
 118 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
others(115): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0080
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0249
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0122
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0081t0003g0154
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0004c0100t0001g0039
a0006c0028t0003g0059
a0006c0028t0003g0230
a0007c0031t0002g0123
a0007c0031t0002g0160
a0008c0101t0005g0027
a0012c0065t0002g0096
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 118 HG00140.hp1
HG00280.hp1
HG00323.hp1
others(115): Show 
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01167.hp1
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp2
HG02083.hp1
HG02132.hp2
HG02135.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18999.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19012.hp1
NA19012.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.107-30744_107-3074
others(6): Show 
c.107-30744_107-30743insGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437497
chr21:45437497 C
C
 G
G
 72 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(69): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 72 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(69): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30745C>G
c.107-30745C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437497
chr21:45437513 C
C
 T
T
 12 a0001c0001t0001g0150
a0001c0004t0001g0013
a0001c0004t0001g0018
others(9): Show 
a0001c0001t0001g0150
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 12 HG00544.hp2
HG01261.hp2
HG01496.hp1
others(9): Show 
HG00544.hp2
HG01261.hp2
HG01496.hp1
HG02165.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA18612.hp2
NA18954.hp2
NA19240.hp1
 intron_variant MODIFIER c.107-30729C>T
c.107-30729C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437513
chr21:45437516 A
A
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-30726A>T
c.107-30726A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437516
chr21:45437516 ACACACAC
others(101): Show 
ACACACACTCAGACACACAGGCACTCTCCTGCACACACACACACACAGAC
ACAGGCACTCTCCTGTACACACACACACTCACACACTCAGACACACAGGC
ACTCTCCTG
 A
A
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.107-30718_107-3061
others(4): Show 
c.107-30718_107-30611del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437516
chr21:45437518 A
A
 ACACACT
ACACACT
 18 a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0002t0001g0024
others(15): Show 
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 18 HG00099.hp1
HG00280.hp2
HG01081.hp2
others(15): Show 
HG00099.hp1
HG00280.hp2
HG01081.hp2
HG01123.hp1
HG01243.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02970.hp1
HG03471.hp1
HG03710.hp1
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30721_107-3071
others(10): Show 
c.107-30721_107-30716dupCACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACACACTC
others(33): Show 
ACACACTCAGACACACAGGCACTCTCCTGCACACACACACT
 3 a0001c0001t0001g0243
a0009c0016t0002g0252
a0025c0050t0002g0108
a0001c0001t0001g0243
a0009c0016t0002g0252
a0025c0050t0002g0108
 3 HG03654.hp1
HG03704.hp1
HG04184.hp1
HG03654.hp1
HG03704.hp1
HG04184.hp1
 intron_variant MODIFIER c.107-30685_107-3068
others(44): Show 
c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC
CTGCACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACACTCAC
others(63): Show 
ACACTCACACACAGGCACTCTCCTGCACACACACACTCAGACACACAGGC
ACTCTCCTGCACACACACACT
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.107-30721_107-3072
others(74): Show 
c.107-30721_107-30720insTCACACACAGGCACTCTCCTGCACAC
ACACACTCAGACACACAGGCACTCTCCTGCACACACACACTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(65): Show 
ACTCACACACACACAGGCACTCTCCTGCACACACACACTCAGACACACAG
GCACTCTCCTGCACACACACACT
 1 a0001c0017t0003g0205
a0001c0017t0003g0205
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.107-30723_107-3072
others(76): Show 
c.107-30723_107-30722insTCACACACACACAGGCACTCTCCTGC
ACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(63): Show 
ACTCACACACACAGGCACTCTCCTGGACACACACACTCAGACACACAGGC
ACTCTCCTGCACACACACACT
 1 a0001c0002t0002g0231
a0001c0002t0002g0231
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.107-30723_107-3072
others(74): Show 
c.107-30723_107-30722insTCACACACACAGGCACTCTCCTGGAC
ACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(67): Show 
ACTCACACTCACACACAGGCACTCTCCTGCACACACACACTCAGACACAC
AGGCACTCTCCTGCACACACACACT
 64 a0001c0001t0001g0033
a0001c0001t0001g0103
a0001c0001t0001g0121
others(61): Show 
a0001c0001t0001g0033
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0126
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0277
a0001c0001t0004g0223
a0001c0002t0002g0047
a0001c0002t0002g0074
a0001c0002t0002g0092
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0133
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0249
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0003g0284
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0064t0001g0061
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0006c0028t0003g0059
a0006c0028t0003g0230
a0021c0086t0002g0176
a0023c0085t0002g0106
 64 HG00323.hp1
HG00558.hp1
HG00621.hp1
others(61): Show 
HG00323.hp1
HG00558.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG01167.hp1
HG01192.hp1
HG01255.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp2
HG02723.hp2
HG02735.hp2
HG02886.hp2
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18747.hp1
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp2
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19007.hp1
NA19012.hp1
NA19012.hp2
NA19065.hp1
NA19065.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.107-30723_107-3072
others(78): Show 
c.107-30723_107-30722insTCACACTCACACACAGGCACTCTCCT
GCACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(65): Show 
ACTCACACTCACACACAGGCACTCTCCTGCACACACACTCAGACACACAG
GCACTCTCCTGCACACACACACT
 4 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
others(1): Show 
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.107-30723_107-3072
others(76): Show 
c.107-30723_107-30722insTCACACTCACACACAGGCACTCTCCT
GCACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(67): Show 
ACTCACACTCACACACAGGCACTCTCCTGGACACACACACTCAGACACAC
AGGCACTCTCCTGCACACACACACT
 29 a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0124
others(26): Show 
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0203
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0013t0002g0122
a0001c0062t0002g0097
a0007c0031t0002g0123
a0007c0031t0002g0160
a0012c0065t0002g0096
a0017c0043t0002g0015
 29 HG00323.hp2
HG00408.hp1
HG00408.hp2
others(26): Show 
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01255.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG02683.hp2
HG02698.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18945.hp2
NA18998.hp1
NA19002.hp1
NA19005.hp1
NA19064.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.107-30723_107-3072
others(78): Show 
c.107-30723_107-30722insTCACACTCACACACAGGCACTCTCCT
GGACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(63): Show 
ACTCACACTCACACACAGGCACTCTCCTGGACACACTCAGACACACAGGC
ACTCTCCTGCACACACACACT
 3 a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
 3 HG01515.hp1
HG01517.hp1
HG03654.hp2
HG01515.hp1
HG01517.hp1
HG03654.hp2
 intron_variant MODIFIER c.107-30723_107-3072
others(74): Show 
c.107-30723_107-30722insTCACACTCACACACAGGCACTCTCCT
GGACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(66): Show 
ACTCACACTCACACACAGGCATCTCCTGCACACACACACTCAGACACACA
GGCACTCTCCTGCACACACACACT
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.107-30723_107-3072
others(77): Show 
c.107-30723_107-30722insTCACACTCACACACAGGCATCTCCTG
CACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 ACTCACAC
others(65): Show 
ACTCACACTCACACAGGCACTCTCCTGCACACACACACTCAGACACACAG
GCACTCTCCTGCACACACACACT
 1 a0001c0081t0003g0154
a0001c0081t0003g0154
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.107-30723_107-3072
others(76): Show 
c.107-30723_107-30722insTCACACTCACACAGGCACTCTCCTGC
ACACACACACTCAGACACACAGGCACTCTCCTGCACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437518
chr21:45437518 A
A
 T
T
 6 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
others(3): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 6 HG02109.hp2
HG02630.hp2
HG02970.hp2
others(3): Show 
HG02109.hp2
HG02630.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30724A>T
c.107-30724A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437518
chr21:45437520 A
A
 T
T
 75 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(72): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0074t0004g0200
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 75 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(72): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30722A>T
c.107-30722A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437520
chr21:45437522 A
A
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.107-30720A>T
c.107-30720A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437522
chr21:45437522 ACT
ACT
 A
A
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30718_107-3071
others(6): Show 
c.107-30718_107-30717delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437522
chr21:45437524 T
T
 A
A
 71 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(68): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0074t0004g0200
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 71 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(68): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30718T>A
c.107-30718T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437524
chr21:45437524 T
T
 TCA
TCA
 5 a0001c0005t0002g0217
a0002c0020t0001g0010
a0002c0020t0001g0011
others(2): Show 
a0001c0005t0002g0217
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0012c0088t0002g0006
 5 HG01074.hp2
HG01081.hp1
NA18522.hp1
others(2): Show 
HG01074.hp2
HG01081.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
 intron_variant MODIFIER c.107-30717_107-3071
others(6): Show 
c.107-30717_107-30716dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437524
chr21:45437524 T
T
 TCACACA
TCACACA
 3 a0001c0004t0001g0013
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0004t0001g0013
a0001c0005t0007g0262
a0001c0005t0007g0263
 3 HG00544.hp2
HG02165.hp2
NA18954.hp2
HG00544.hp2
HG02165.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30716_107-3071
others(10): Show 
c.107-30716_107-30715insCACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437524
chr21:45437524 TCAGACAC
others(93): Show 
TCAGACACACAGGCACTCTCCTGCACACACACACACACAGACACAGGCAC
TCTCCTGTACACACACACACTCACACACTCAGACACACAGGCACTCTCCT
G
 T
T
 8 a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
others(5): Show 
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 8 HG01261.hp2
HG01496.hp1
HG02451.hp1
others(5): Show 
HG01261.hp2
HG01496.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-30715_107-3061
others(104): Show 
c.107-30715_107-30616delGACACACAGGCACTCTCCTGCACACA
CACACACACAGACACAGGCACTCTCCTGTACACACACACACTCACACACT
CAGACACACAGGCACTCTCCTGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437524
chr21:45437525 CAG
CAG
 C
C
 6 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
others(3): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 6 HG02109.hp2
HG02630.hp2
HG02970.hp2
others(3): Show 
HG02109.hp2
HG02630.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30715_107-3071
others(6): Show 
c.107-30715_107-30714delGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437525
chr21:45437526 A
A
 T
T
 71 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(68): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0074t0004g0200
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 71 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(68): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30716A>T
c.107-30716A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437526
chr21:45437527 G
G
 C
C
 77 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(74): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0074t0004g0200
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 77 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(74): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30715G>C
c.107-30715G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437527
chr21:45437530 A
A
 T
T
 1 a0003c0009t0001g0054
a0003c0009t0001g0054
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.107-30712A>T
c.107-30712A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437530
chr21:45437531 C
C
 G
G
 66 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(63): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30711C>G
c.107-30711C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437531
chr21:45437543 C
C
 CCTGCACA
others(33): Show 
CCTGCACACACACACTCACACTCAGACACACAGGCACTCTG
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-30685_107-3068
others(44): Show 
c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTG
CTGCACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437543
chr21:45437546 G
G
 GCA
GCA
 3 a0001c0027t0001g0019
a0002c0083t0001g0237
a0002c0084t0002g0212
a0001c0027t0001g0019
a0002c0083t0001g0237
a0002c0084t0002g0212
 3 HG02258.hp1
HG03710.hp2
HG03831.hp1
HG02258.hp1
HG03710.hp2
HG03831.hp1
 intron_variant MODIFIER c.107-30681_107-3068
others(6): Show 
c.107-30681_107-30680dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437546
chr21:45437546 G
G
 GCACACAC
others(35): Show 
GCACACACACACTCACACTCAGACACACAGGCACTCTCCTGCA
 1 a0001c0017t0002g0179
a0001c0017t0002g0179
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.107-30685_107-3068
others(46): Show 
c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC
CTGCACACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437546
chr21:45437546 GCA
GCA
 G
G
 9 a0001c0001t0001g0099
a0001c0001t0001g0135
a0001c0001t0001g0203
others(6): Show 
a0001c0001t0001g0099
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0019c0096t0015g0045
 9 HG00323.hp2
HG00735.hp1
HG00738.hp2
others(6): Show 
HG00323.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01255.hp2
HG01515.hp2
HG01517.hp2
HG02280.hp1
NA18944.hp2
 intron_variant MODIFIER c.107-30681_107-3068
others(6): Show 
c.107-30681_107-30680delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437546
chr21:45437547 C
C
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30695C>T
c.107-30695C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437547
chr21:45437548 A
A
 ACACACAC
others(31): Show 
ACACACACACTCACACTCAGACACACAGGCACTCTCCTG
 2 a0001c0013t0014g0210
a0029c0071t0002g0134
a0001c0013t0014g0210
a0029c0071t0002g0134
 2 HG00642.hp2
HG01192.hp2
HG00642.hp2
HG01192.hp2
 intron_variant MODIFIER c.107-30685_107-3068
others(42): Show 
c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC
CTGCACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437548
chr21:45437548 ACACACAC
others(97): Show 
ACACACACACACACAGACACAGGCACTCTCCTGTACACACACACACTCAC
ACACTCAGACACACAGGCACTCTCCTGCACACACACTCACACAGGCACTC
TCCTG
 A
A
 3 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
 3 HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.107-30680_107-3057
others(4): Show 
c.107-30680_107-30577del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437548
chr21:45437550 A
A
 ACACACAC
others(29): Show 
ACACACACTCACACTCAGACACACAGGCACTCTCCTG
 4 a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
others(1): Show 
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
 4 HG02622.hp2
HG02965.hp1
HG03041.hp1
others(1): Show 
HG02622.hp2
HG02965.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-30685_107-3068
others(40): Show 
c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC
CTGCACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437550
chr21:45437550 ACACACAC
others(95): Show 
ACACACACACACAGACACAGGCACTCTCCTGTACACACACACACTCACAC
ACTCAGACACACAGGCACTCTCCTGCACACACACTCACACAGGCACTCTC
CTG
 A
A
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30679_107-3057
others(4): Show 
c.107-30679_107-30578del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437550
chr21:45437552 A
A
 ACACACTC
others(57): Show 
ACACACTCACACAGGCACTCTCCTGCACACACACACTCACACTCAGACAC
ACAGGCACTCTCCTG
 2 a0022c0068t0010g0004
a0024c0066t0010g0066
a0022c0068t0010g0004
a0024c0066t0010g0066
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.107-30685_107-3068
others(68): Show 
c.107-30685_107-30684insTCACACAGGCACTCTCCTGCACACAC
ACACTCACACTCAGACACACAGGCACTCTCCTGCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437552
chr21:45437552 A
A
 ACACACTC
others(27): Show 
ACACACTCACACTCAGACACACAGGCACTCTCCTG
 3 a0001c0054t0002g0201
a0004c0099t0003g0030
a0005c0058t0001g0165
a0001c0054t0002g0201
a0004c0099t0003g0030
a0005c0058t0001g0165
 3 HG01243.hp1
HG02922.hp1
NA19057.hp1
HG01243.hp1
HG02922.hp1
NA19057.hp1
 intron_variant MODIFIER c.107-30685_107-3068
others(38): Show 
c.107-30685_107-30684insTCACACTCAGACACACAGGCACTCTC
CTGCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437552
chr21:45437554 A
A
 T
T
 63 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(60): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 63 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02630.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30688A>T
c.107-30688A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437554
chr21:45437556 A
A
 T
T
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.107-30686A>T
c.107-30686A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437556
chr21:45437556 ACACACAG
others(61): Show 
ACACACAGACACAGGCACTCTCCTGTACACACACACACTCACACACTCAG
ACACACAGGCACTCTCCTG
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30679_107-3061
others(72): Show 
c.107-30679_107-30612delGACACAGGCACTCTCCTGTACACACA
CACACTCACACACTCAGACACACAGGCACTCTCCTGCACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437556
chr21:45437558 A
A
 T
T
 6 a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
others(3): Show 
a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0074t0004g0200
a0008c0101t0005g0027
 6 HG02602.hp2
HG03209.hp2
HG03453.hp1
others(3): Show 
HG02602.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.107-30684A>T
c.107-30684A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437558
chr21:45437558 ACACAGAC
others(69): Show 
ACACAGACACAGGCACTCTCCTGTACACACACACACTCACACACTCAGAC
ACACAGGCACTCTCCTGCACACACACT
 A
A
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.107-30679_107-3060
others(80): Show 
c.107-30679_107-30604delGACACAGGCACTCTCCTGTACACACA
CACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACTCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437558
chr21:45437560 A
A
 T
T
 66 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(63): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0019c0096t0015g0045
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02630.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02970.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30682A>T
c.107-30682A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437560
chr21:45437561 C
C
 CTCAG
CTCAG
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30681_107-3068
others(8): Show 
c.107-30681_107-30680insTCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437561
chr21:45437561 C
C
 G
G
 3 a0001c0003t0001g0043
a0001c0004t0001g0112
a0001c0074t0004g0200
a0001c0003t0001g0043
a0001c0004t0001g0112
a0001c0074t0004g0200
 3 HG02602.hp2
HG03540.hp1
HG03834.hp2
HG02602.hp2
HG03540.hp1
HG03834.hp2
 intron_variant MODIFIER c.107-30681C>G
c.107-30681C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437561
chr21:45437563 G
G
 C
C
 72 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(69): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 72 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(69): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18954.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30679G>C
c.107-30679G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437563
chr21:45437580 G
G
 T
T
 1 a0001c0017t0002g0179
a0001c0017t0002g0179
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.107-30662G>T
c.107-30662G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437580
chr21:45437580 GTA
GTA
 G
G
 9 a0001c0003t0001g0043
a0001c0003t0001g0110
a0001c0003t0001g0287
others(6): Show 
a0001c0003t0001g0043
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0074t0004g0200
a0008c0101t0005g0027
 9 HG00544.hp2
HG01258.hp2
HG01346.hp2
others(6): Show 
HG00544.hp2
HG01258.hp2
HG01346.hp2
HG02602.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.107-30661_107-3066
others(6): Show 
c.107-30661_107-30660delTA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437580
chr21:45437580 GTACACAC
others(67): Show 
GTACACACACACACTCACACACTCAGACACACAGGCACTCTCCTGCACAC
ACACTCACACAGGCACTCTCCTGCA
 G
G
 63 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(60): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 63 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(60): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02630.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30661_107-3058
others(78): Show 
c.107-30661_107-30588delTACACACACACACTCACACACTCAGA
CACACAGGCACTCTCCTGCACACACACTCACACAGGCACTCTCCTGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437580
chr21:45437581 T
T
 C
C
 4 a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0037t0001g0062
others(1): Show 
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0037t0001g0062
a0001c0037t0001g0157
 4 HG02165.hp2
HG02970.hp2
HG03195.hp1
others(1): Show 
HG02165.hp2
HG02970.hp2
HG03195.hp1
NA18954.hp2
 intron_variant MODIFIER c.107-30661T>C
c.107-30661T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437581
chr21:45437582 ACACACAC
others(63): Show 
ACACACACACACTCACACACTCAGACACACAGGCACTCTCCTGCACACAC
ACTCACACAGGCACTCTCCTG
 A
A
 2 a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0005t0007g0262
a0001c0005t0007g0263
 2 HG02165.hp2
NA18954.hp2
HG02165.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30648_107-3057
others(74): Show 
c.107-30648_107-30579delTCACACACTCAGACACACAGGCACTC
TCCTGCACACACACTCACACAGGCACTCTCCTGCACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437582
chr21:45437594 T
T
 A
A
 2 a0001c0004t0001g0013
a0001c0005t0002g0217
a0001c0004t0001g0013
a0001c0005t0002g0217
 2 HG00544.hp2
NA18612.hp2
HG00544.hp2
NA18612.hp2
 intron_variant MODIFIER c.107-30648T>A
c.107-30648T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437594
chr21:45437594 TCA
TCA
 T
T
 8 a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
others(5): Show 
a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0074t0004g0200
a0008c0101t0005g0027
 8 HG02602.hp2
HG02970.hp2
HG03195.hp1
others(5): Show 
HG02602.hp2
HG02970.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.107-30642_107-3064
others(6): Show 
c.107-30642_107-30641delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437594
chr21:45437598 A
A
 T
T
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-30644A>T
c.107-30644A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437598
chr21:45437600 A
A
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-30642A>T
c.107-30642A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437600
chr21:45437602 T
T
 A
A
 3 a0001c0027t0001g0019
a0001c0027t0001g0020
a0019c0096t0015g0045
a0001c0027t0001g0019
a0001c0027t0001g0020
a0019c0096t0015g0045
 3 HG02258.hp1
HG02280.hp1
HG02723.hp2
HG02258.hp1
HG02280.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-30640T>A
c.107-30640T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437602
chr21:45437605 G
G
 A
A
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-30637G>A
c.107-30637G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437605
chr21:45437605 GACACACA
others(23): Show 
GACACACAGGCACTCTCCTGCACACACACTC
 G
G
 1 a0001c0003t0001g0043
a0001c0003t0001g0043
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.107-30631_107-3060
others(34): Show 
c.107-30631_107-30602delCAGGCACTCTCCTGCACACACACTCA
CACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437605
chr21:45437621 C
C
 G
G
 2 a0001c0004t0001g0013
a0001c0005t0002g0217
a0001c0004t0001g0013
a0001c0005t0002g0217
 2 HG00544.hp2
NA18612.hp2
HG00544.hp2
NA18612.hp2
 intron_variant MODIFIER c.107-30621C>G
c.107-30621C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437621
chr21:45437624 GCACACAC
others(297): Show 
GCACACACACTCACACAGGCACTCTCCTGCACACACACACACTCAGACAC
ACAGGCACTCTCCTGCACACACACACACACACTCAGACACACAGGCACTC
TCCTGCACACACACACTCACACACTCAGACACAGGCACTCTCCTGCACAC
ACACACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTC
ACACTCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACAC
ACAGGCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCT
GCACA
 G
G
 2 a0001c0004t0001g0013
a0001c0005t0002g0217
a0001c0004t0001g0013
a0001c0005t0002g0217
 2 HG00544.hp2
NA18612.hp2
HG00544.hp2
NA18612.hp2
 intron_variant MODIFIER c.107-30608_107-3030
others(4): Show 
c.107-30608_107-30305del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437624
chr21:45437628 A
A
 ACACT
ACACT
 6 a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
others(3): Show 
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
a0001c0001t0002g0278
a0001c0001t0013g0276
a0007c0031t0002g0123
 6 HG00408.hp2
HG01928.hp2
NA18945.hp2
others(3): Show 
HG00408.hp2
HG01928.hp2
NA18945.hp2
NA19002.hp1
NA19064.hp1
NA19088.hp1
 intron_variant MODIFIER c.107-30611_107-3061
others(8): Show 
c.107-30611_107-30610insTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437628
chr21:45437628 A
A
 T
T
 13 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0003t0001g0153
a0001c0004t0001g0213
a0001c0041t0001g0155
a0001c0087t0001g0055
a0004c0023t0002g0138
a0004c0023t0002g0163
a0018c0095t0001g0146
a0028c0097t0001g0036
 13 HG01891.hp2
HG02145.hp1
HG02486.hp2
others(10): Show 
HG01891.hp2
HG02145.hp1
HG02486.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
NA19043.hp2
NA19064.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-30614A>T
c.107-30614A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437628
chr21:45437628 ACACACTC
others(17): Show 
ACACACTCACACAGGCACTCTCCTG
 A
A
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30608_107-3058
others(28): Show 
c.107-30608_107-30585delTCACACAGGCACTCTCCTGCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437628
chr21:45437630 ACACT
ACACT
 A
A
 24 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(21): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 24 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(21): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30608_107-3060
others(8): Show 
c.107-30608_107-30605delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437630
chr21:45437633 C
C
 G
G
 19 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(16): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0213
a0001c0004t0016g0051
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0028c0097t0001g0036
a0031c0092t0011g0190
 19 HG01261.hp2
HG01496.hp1
HG01891.hp2
others(16): Show 
HG01261.hp2
HG01496.hp1
HG01891.hp2
HG02145.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG06807.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30609C>G
c.107-30609C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437633
chr21:45437634 T
T
 A
A
 23 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(20): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0016g0051
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0074t0004g0200
a0001c0087t0001g0055
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0028c0097t0001g0036
a0031c0092t0011g0190
 23 HG01261.hp2
HG01496.hp1
HG01891.hp2
others(20): Show 
HG01261.hp2
HG01496.hp1
HG01891.hp2
HG02145.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02970.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp1
HG03540.hp2
HG03834.hp2
HG06807.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30608T>A
c.107-30608T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437634
chr21:45437634 T
T
 TCA
TCA
 6 a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
others(3): Show 
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
a0001c0001t0002g0278
a0001c0001t0013g0276
a0007c0031t0002g0123
 6 HG00408.hp2
HG01928.hp2
NA18945.hp2
others(3): Show 
HG00408.hp2
HG01928.hp2
NA18945.hp2
NA19002.hp1
NA19064.hp1
NA19088.hp1
 intron_variant MODIFIER c.107-30603_107-3060
others(6): Show 
c.107-30603_107-30602dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437634
chr21:45437634 T
T
 TCACACAG
others(29): Show 
TCACACAGGCACTCTCCTGCACACACACACACTCAGA
 2 a0009c0016t0002g0252
a0025c0050t0002g0108
a0009c0016t0002g0252
a0025c0050t0002g0108
 2 HG03654.hp1
HG04184.hp1
HG03654.hp1
HG04184.hp1
 intron_variant MODIFIER c.107-30576_107-3054
others(40): Show 
c.107-30576_107-30541dupTCAGACACACAGGCACTCTCCTGCAC
ACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437634
chr21:45437634 TCACACAG
others(303): Show 
TCACACAGGCACTCTCCTGCACACACACACACTCAGACACACAGGCACTC
TCCTGCACACACACACACACACTCAGACACACAGGCACTCTCCTGCACAC
ACACACTCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTC
ACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACACTCAGAC
AAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCACTC
TCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCACACACAC
ACACACACTCA
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-30607_107-3029
others(4): Show 
c.107-30607_107-30298del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437634
chr21:45437638 ACAGGCAC
others(21): Show 
ACAGGCACTCTCCTGCACACACACACACT
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-30600_107-3057
others(32): Show 
c.107-30600_107-30573delGCACTCTCCTGCACACACACACACTC
AG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437638
chr21:45437641 GGCACTCT
others(23): Show 
GGCACTCTCCTGCACACACACACACTCAGAC
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30600_107-3057
others(34): Show 
c.107-30600_107-30571delGCACTCTCCTGCACACACACACACTC
AGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437641
chr21:45437652 GCA
GCA
 G
G
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.107-30578_107-3057
others(6): Show 
c.107-30578_107-30577delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437652
chr21:45437652 GCACA
GCACA
 G
G
 6 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
others(3): Show 
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
 6 HG01891.hp1
HG02109.hp1
HG02723.hp1
others(3): Show 
HG01891.hp1
HG02109.hp1
HG02723.hp1
HG02970.hp1
HG03471.hp1
NA20129.hp1
 intron_variant MODIFIER c.107-30580_107-3057
others(8): Show 
c.107-30580_107-30577delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437652
chr21:45437653 C
C
 G
G
 6 a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
others(3): Show 
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0248
a0001c0001t0002g0278
a0001c0001t0013g0276
a0007c0031t0002g0123
 6 HG00408.hp2
HG01928.hp2
NA18945.hp2
others(3): Show 
HG00408.hp2
HG01928.hp2
NA18945.hp2
NA19002.hp1
NA19064.hp1
NA19088.hp1
 intron_variant MODIFIER c.107-30589C>G
c.107-30589C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437653
chr21:45437660 A
A
 T
T
 4 a0001c0003t0001g0153
a0011c0040t0001g0046
a0011c0040t0001g0076
others(1): Show 
a0001c0003t0001g0153
a0011c0040t0001g0046
a0011c0040t0001g0076
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
NA19064.hp2
 intron_variant MODIFIER c.107-30582A>T
c.107-30582A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437660
chr21:45437662 A
A
 T
T
 7 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
others(4): Show 
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 7 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(4): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30580A>T
c.107-30580A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437662
chr21:45437665 CTCAG
CTCAG
 C
C
 7 a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
others(4): Show 
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0004c0091t0001g0056
a0031c0092t0011g0190
 7 HG01261.hp2
HG01496.hp1
HG02451.hp1
others(4): Show 
HG01261.hp2
HG01496.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.107-30576_107-3057
others(8): Show 
c.107-30576_107-30573delTCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437665
chr21:45437666 T
T
 A
A
 49 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(46): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0043
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
 49 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(46): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02486.hp2
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30576T>A
c.107-30576T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437666
chr21:45437666 TCAGA
TCAGA
 T
T
 48 a0001c0001t0001g0093
a0001c0001t0001g0103
a0001c0001t0001g0121
others(45): Show 
a0001c0001t0001g0093
a0001c0001t0001g0103
a0001c0001t0001g0121
a0001c0001t0001g0126
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0277
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0074
a0001c0002t0002g0092
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0133
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0249
a0001c0006t0003g0079
a0001c0008t0002g0240
a0001c0017t0003g0284
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0061t0001g0257
a0001c0064t0001g0061
a0001c0081t0003g0154
a0005c0058t0001g0165
a0006c0028t0003g0059
a0011c0040t0001g0046
a0011c0040t0001g0076
a0020c0094t0011g0075
 48 HG00140.hp1
HG00323.hp1
HG00558.hp1
others(45): Show 
HG00140.hp1
HG00323.hp1
HG00558.hp1
HG00621.hp1
HG00639.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01993.hp1
HG02040.hp2
HG02083.hp1
HG02135.hp2
HG02165.hp1
HG02258.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02735.hp2
HG03704.hp2
HG04228.hp2
NA18747.hp1
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19007.hp1
NA19012.hp2
NA19057.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA20905.hp1
 intron_variant MODIFIER c.107-30573_107-3057
others(8): Show 
c.107-30573_107-30570delGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437666
chr21:45437669 GAC
GAC
 G
G
 6 a0001c0001t0001g0273
a0001c0003t0001g0043
a0001c0022t0001g0008
others(3): Show 
a0001c0001t0001g0273
a0001c0003t0001g0043
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 6 HG00558.hp2
HG02602.hp2
HG03209.hp2
others(3): Show 
HG00558.hp2
HG02602.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30567_107-3056
others(6): Show 
c.107-30567_107-30566delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437669
chr21:45437670 A
A
 T
T
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.107-30572A>T
c.107-30572A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437670
chr21:45437677 G
G
 T
T
 48 a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
others(45): Show 
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0203
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0122
a0001c0017t0003g0205
a0001c0062t0002g0097
a0007c0031t0002g0123
a0007c0031t0002g0160
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
 48 HG00280.hp1
HG00323.hp2
HG00408.hp1
others(45): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01081.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02132.hp2
HG02273.hp1
HG02683.hp2
HG02698.hp1
HG03654.hp2
HG03688.hp1
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18945.hp2
NA18998.hp1
NA19002.hp1
NA19005.hp1
NA19064.hp1
NA19088.hp1
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.107-30565G>T
c.107-30565G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437677
chr21:45437685 C
C
 G
G
 3 a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
 3 HG02165.hp2
HG03834.hp2
NA18954.hp2
HG02165.hp2
HG03834.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30557C>G
c.107-30557C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437685
chr21:45437688 G
G
 GCA
GCA
 3 a0001c0001t0001g0126
a0001c0002t0002g0117
a0001c0008t0002g0270
a0001c0001t0001g0126
a0001c0002t0002g0117
a0001c0008t0002g0270
 3 HG00323.hp2
HG02004.hp1
HG04228.hp2
HG00323.hp2
HG02004.hp1
HG04228.hp2
 intron_variant MODIFIER c.107-30538_107-3053
others(6): Show 
c.107-30538_107-30537dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437688
chr21:45437688 GCA
GCA
 G
G
 8 a0001c0001t0001g0277
a0001c0002t0002g0231
a0001c0027t0001g0019
others(5): Show 
a0001c0001t0001g0277
a0001c0002t0002g0231
a0001c0027t0001g0019
a0001c0027t0001g0020
a0003c0046t0001g0002
a0007c0034t0001g0282
a0026c0044t0001g0037
a0031c0092t0011g0190
 8 HG00733.hp2
HG01496.hp1
HG02132.hp2
others(5): Show 
HG00733.hp2
HG01496.hp1
HG02132.hp2
HG02258.hp1
HG02723.hp2
HG02922.hp2
NA18945.hp1
NA19060.hp2
 intron_variant MODIFIER c.107-30538_107-3053
others(6): Show 
c.107-30538_107-30537delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437688
chr21:45437688 GCACA
GCACA
 G
G
 11 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0004t0001g0112
others(8): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0004c0057t0002g0035
a0009c0016t0001g0209
a0029c0071t0002g0134
 11 HG00099.hp1
HG00642.hp2
HG01123.hp1
others(8): Show 
HG00099.hp1
HG00642.hp2
HG01123.hp1
HG01192.hp2
HG01978.hp2
HG02165.hp2
HG02559.hp2
HG03098.hp2
HG03834.hp2
HG06807.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30540_107-3053
others(8): Show 
c.107-30540_107-30537delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437688
chr21:45437689 C
C
 T
T
 49 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(46): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0019c0096t0015g0045
a0028c0097t0001g0036
 49 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(46): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30553C>T
c.107-30553C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437689
chr21:45437698 A
A
 T
T
 3 a0001c0003t0001g0043
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0003t0001g0043
a0001c0037t0001g0062
a0001c0037t0001g0157
 3 HG02602.hp2
HG02970.hp2
HG03195.hp1
HG02602.hp2
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30544A>T
c.107-30544A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437698
chr21:45437700 A
A
 ACT
ACT
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30541_107-3054
others(6): Show 
c.107-30541_107-30540insTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437700
chr21:45437700 A
A
 T
T
 115 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(112): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 115 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(112): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30542A>T
c.107-30542A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437700
chr21:45437702 A
A
 T
T
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30540A>T
c.107-30540A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437702
chr21:45437706 T
T
 A
A
 46 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(43): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0001g0095
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0007c0076t0002g0281
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
 46 HG00280.hp2
HG00423.hp1
HG00609.hp1
others(43): Show 
HG00280.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18964.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30536T>A
c.107-30536T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437706
chr21:45437708 A
A
 T
T
 2 a0001c0002t0001g0095
a0007c0076t0002g0281
a0001c0002t0001g0095
a0007c0076t0002g0281
 2 HG00280.hp2
NA18964.hp1
HG00280.hp2
NA18964.hp1
 intron_variant MODIFIER c.107-30534A>T
c.107-30534A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437708
chr21:45437709 G
G
 C
C
 2 a0001c0002t0001g0095
a0007c0076t0002g0281
a0001c0002t0001g0095
a0007c0076t0002g0281
 2 HG00280.hp2
NA18964.hp1
HG00280.hp2
NA18964.hp1
 intron_variant MODIFIER c.107-30533G>C
c.107-30533G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437709
chr21:45437709 GAC
GAC
 G
G
 94 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0250
others(91): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0250
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0082t0008g0053
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0088t0002g0006
a0013c0051t0001g0195
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0029c0071t0002g0134
a0030c0056t0001g0044
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 94 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(91): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01943.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18998.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19060.hp2
NA19064.hp2
NA19088.hp2
NA20129.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30527_107-3052
others(6): Show 
c.107-30527_107-30526delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437709
chr21:45437711 C
C
 G
G
 2 a0001c0002t0001g0095
a0007c0076t0002g0281
a0001c0002t0001g0095
a0007c0076t0002g0281
 2 HG00280.hp2
NA18964.hp1
HG00280.hp2
NA18964.hp1
 intron_variant MODIFIER c.107-30531C>G
c.107-30531C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437711
chr21:45437725 C
C
 G
G
 8 a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
others(5): Show 
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 8 HG01261.hp2
HG01496.hp1
HG02451.hp1
others(5): Show 
HG01261.hp2
HG01496.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-30517C>G
c.107-30517C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437725
chr21:45437726 C
C
 T
T
 5 a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
others(2): Show 
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0009c0016t0001g0209
a0029c0071t0002g0134
 5 HG00099.hp1
HG00642.hp2
HG01123.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01123.hp1
HG01192.hp2
HG01978.hp2
 intron_variant MODIFIER c.107-30516C>T
c.107-30516C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437726
chr21:45437728 GCA
GCA
 G
G
 11 a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0236
others(8): Show 
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0012c0088t0002g0006
a0018c0095t0001g0146
 11 HG00140.hp1
HG01074.hp2
HG01081.hp1
others(8): Show 
HG00140.hp1
HG01074.hp2
HG01081.hp1
HG02165.hp2
HG03704.hp2
HG03834.hp2
NA18522.hp1
NA18906.hp1
NA18954.hp2
NA18999.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-30504_107-3050
others(6): Show 
c.107-30504_107-30503delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437728
chr21:45437728 GCACACAC
others(193): Show 
GCACACACACACTCACACACTCAGACACAGGCACTCTCCTGCACACACAC
ACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACAC
TCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAG
GCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCAC
A
 G
G
 8 a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
others(5): Show 
a0001c0001t0001g0150
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0063t0001g0144
a0004c0091t0001g0056
a0031c0092t0011g0190
 8 HG01261.hp2
HG01496.hp1
HG02451.hp1
others(5): Show 
HG01261.hp2
HG01496.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-30502_107-3030
others(4): Show 
c.107-30502_107-30303del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437728
chr21:45437728 GCACACAC
others(197): Show 
GCACACACACACTCACACACTCAGACACAGGCACTCTCCTGCACACACAC
ACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACAC
TCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAG
GCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCAC
ACACA
 G
G
 3 a0011c0040t0001g0046
a0011c0040t0001g0076
a0020c0094t0011g0075
a0011c0040t0001g0046
a0011c0040t0001g0076
a0020c0094t0011g0075
 3 HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp1
 intron_variant MODIFIER c.107-30504_107-3030
others(4): Show 
c.107-30504_107-30301del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437728
chr21:45437734 ACACACT
ACACACT
 A
A
 67 a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0043
others(64): Show 
a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 67 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(64): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30502_107-3049
others(10): Show 
c.107-30502_107-30497delTCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437734
chr21:45437736 ACACTCAC
others(5): Show 
ACACTCACACACT
 A
A
 4 a0001c0001t0001g0142
a0001c0002t0012g0109
a0003c0009t0001g0167
others(1): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0003c0009t0001g0167
a0003c0010t0002g0068
 4 HG02145.hp2
HG02683.hp1
HG02809.hp2
others(1): Show 
HG02145.hp2
HG02683.hp1
HG02809.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30503_107-3049
others(16): Show 
c.107-30503_107-30492delCTCACACACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437736
chr21:45437738 ACT
ACT
 A
A
 3 a0001c0002t0001g0024
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0002t0001g0024
a0001c0038t0004g0028
a0001c0038t0004g0029
 3 HG02572.hp1
HG02622.hp1
HG03710.hp1
HG02572.hp1
HG02622.hp1
HG03710.hp1
 intron_variant MODIFIER c.107-30502_107-3050
others(6): Show 
c.107-30502_107-30501delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437738
chr21:45437738 ACTCACAC
others(121): Show 
ACTCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTCACTC
ACACACAGACACACAGGCACTCTCCTGCACACACTCACACTCAGACAAGC
ACTCTCCTGCACACACTCACACTCACACT
 A
A
 44 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(41): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
 44 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(41): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30502_107-3037
others(4): Show 
c.107-30502_107-30375del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437738
chr21:45437740 T
T
 A
A
 5 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(2): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
 5 HG02280.hp1
HG02559.hp1
HG02630.hp1
others(2): Show 
HG02280.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30502T>A
c.107-30502T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437740
chr21:45437740 TCACACAC
others(123): Show 
TCACACACTCAGACACAGGCACTCTCCTGCACACACACACACTCACTCAC
ACACAGACACACAGGCACTCTCCTGCACACACTCACACTCAGACAAGCAC
TCTCCTGCACACACTCACACTCACACTCAGA
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30495_107-3036
others(4): Show 
c.107-30495_107-30366del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437740
chr21:45437742 A
A
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-30500A>T
c.107-30500A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437742
chr21:45437748 T
T
 A
A
 75 a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0043
others(72): Show 
a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 75 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(72): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30494T>A
c.107-30494T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437748
chr21:45437749 C
C
 G
G
 3 a0002c0020t0001g0010
a0002c0020t0001g0011
a0012c0088t0002g0006
a0002c0020t0001g0010
a0002c0020t0001g0011
a0012c0088t0002g0006
 3 HG01074.hp2
HG01081.hp1
NA18522.hp1
HG01074.hp2
HG01081.hp1
NA18522.hp1
 intron_variant MODIFIER c.107-30493C>G
c.107-30493C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437749
chr21:45437749 CAG
CAG
 C
C
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
a0018c0095t0001g0146
a0019c0096t0015g0045
 6 HG02280.hp1
HG03209.hp2
HG03453.hp1
others(3): Show 
HG02280.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-30491_107-3049
others(6): Show 
c.107-30491_107-30490delGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437749
chr21:45437751 G
G
 C
C
 6 a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
others(3): Show 
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0002c0020t0001g0010
a0002c0020t0001g0011
a0012c0088t0002g0006
 6 HG01074.hp2
HG01081.hp1
HG02165.hp2
others(3): Show 
HG01074.hp2
HG01081.hp1
HG02165.hp2
HG03834.hp2
NA18522.hp1
NA18954.hp2
 intron_variant MODIFIER c.107-30491G>C
c.107-30491G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437751
chr21:45437751 G
G
 GAC
GAC
 21 a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
others(18): Show 
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0034t0001g0282
a0009c0016t0001g0209
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 21 HG00099.hp1
HG00280.hp2
HG00642.hp2
others(18): Show 
HG00099.hp1
HG00280.hp2
HG00642.hp2
HG01123.hp1
HG01192.hp2
HG01891.hp1
HG01978.hp2
HG02109.hp1
HG02132.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03471.hp1
HG03540.hp1
NA18747.hp2
NA18906.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30487_107-3048
others(6): Show 
c.107-30487_107-30486dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437751
chr21:45437758 GCA
GCA
 G
G
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30482_107-3048
others(6): Show 
c.107-30482_107-30481delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437758
chr21:45437765 C
C
 G
G
 3 a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
 3 HG02165.hp2
HG03834.hp2
NA18954.hp2
HG02165.hp2
HG03834.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30477C>G
c.107-30477C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437765
chr21:45437765 CCTG
CCTG
 C
C
 4 a0001c0054t0002g0201
a0004c0099t0003g0030
a0022c0068t0010g0004
others(1): Show 
a0001c0054t0002g0201
a0004c0099t0003g0030
a0022c0068t0010g0004
a0024c0066t0010g0066
 4 HG01243.hp1
HG02895.hp2
HG02922.hp1
others(1): Show 
HG01243.hp1
HG02895.hp2
HG02922.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-30475_107-3047
others(7): Show 
c.107-30475_107-30473delTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437765
chr21:45437768 GCA
GCA
 G
G
 12 a0001c0003t0001g0181
a0001c0004t0001g0112
a0001c0005t0007g0262
others(9): Show 
a0001c0003t0001g0181
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0018c0095t0001g0146
 12 HG02165.hp2
HG02965.hp1
HG03041.hp1
others(9): Show 
HG02165.hp2
HG02965.hp1
HG03041.hp1
HG03834.hp2
NA18954.hp1
NA18954.hp2
NA18977.hp2
NA19010.hp1
NA19043.hp1
NA19070.hp1
NA19074.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-30462_107-3046
others(6): Show 
c.107-30462_107-30461delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437768
chr21:45437769 C
C
 T
T
 75 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(72): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 75 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(72): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30473C>T
c.107-30473C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437769
chr21:45437771 C
C
 T
T
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.107-30471C>T
c.107-30471C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437771
chr21:45437778 ACACT
ACACT
 A
A
 10 a0001c0001t0001g0126
a0001c0001t0001g0277
a0001c0002t0002g0178
others(7): Show 
a0001c0001t0001g0126
a0001c0001t0001g0277
a0001c0002t0002g0178
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0002c0084t0002g0212
a0021c0086t0002g0176
a0027c0070t0001g0012
 10 HG01070.hp1
HG01167.hp2
HG02257.hp1
others(7): Show 
HG01070.hp1
HG01167.hp2
HG02257.hp1
HG02647.hp1
HG02965.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp2
NA18522.hp2
NA18945.hp1
 intron_variant MODIFIER c.107-30456_107-3045
others(8): Show 
c.107-30456_107-30453delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437778
chr21:45437778 ACACTCAC
others(75): Show 
ACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACAC
TCAGACAAGCACTCTCCTGCACACACTCACACT
 A
A
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30460_107-3037
others(86): Show 
c.107-30460_107-30379delTCACTCACACACAGACACACAGGCAC
TCTCCTGCACACACTCACACTCAGACAAGCACTCTCCTGCACACACTCAC
ACTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437778
chr21:45437782 TCACTCAC
others(3): Show 
TCACTCACACA
 T
T
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30457_107-3044
others(14): Show 
c.107-30457_107-30448delCTCACACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437782
chr21:45437784 ACT
ACT
 A
A
 60 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(57): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 60 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(57): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30456_107-3045
others(6): Show 
c.107-30456_107-30455delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437784
chr21:45437784 ACTCACAC
others(31): Show 
ACTCACACACAGACACACAGGCACTCTCCTGCACACACT
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30456_107-3041
others(42): Show 
c.107-30456_107-30419delTCACACACAGACACACAGGCACTCTC
CTGCACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437784
chr21:45437786 T
T
 A
A
 5 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(2): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0027c0070t0001g0012
 5 HG01167.hp2
HG02257.hp1
HG02647.hp1
others(2): Show 
HG01167.hp2
HG02257.hp1
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.107-30456T>A
c.107-30456T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437786
chr21:45437786 TCA
TCA
 T
T
 4 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(1): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 4 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(1): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.107-30449_107-3044
others(6): Show 
c.107-30449_107-30448delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437786
chr21:45437786 TCACACA
TCACACA
 T
T
 3 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
 3 HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.107-30453_107-3044
others(10): Show 
c.107-30453_107-30448delCACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437786
chr21:45437792 A
A
 T
T
 66 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(63): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0019c0096t0015g0045
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30450A>T
c.107-30450A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437792
chr21:45437814 G
G
 GCA
GCA
 3 a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
 3 HG01943.hp1
HG01993.hp2
HG02004.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
 intron_variant MODIFIER c.107-30422_107-3042
others(6): Show 
c.107-30422_107-30421dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437814
chr21:45437814 G
G
 GCACA
GCACA
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30424_107-3042
others(8): Show 
c.107-30424_107-30421dupACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437814
chr21:45437814 GCACACAC
others(111): Show 
GCACACACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACTCAC
ACTCAGACACACAGGCACTCTCCTGCACACACACACTCACTCAGACACAG
GCACTCTCCTGCACACACA
 G
G
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-30420_107-3030
others(4): Show 
c.107-30420_107-30303del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437814
chr21:45437816 A
A
 ACACACT
ACACACT
 39 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0002t0001g0095
others(36): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0002t0001g0095
a0001c0013t0002g0206
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0004c0057t0002g0035
a0004c0099t0003g0030
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 39 HG00099.hp1
HG00280.hp2
HG00639.hp2
others(36): Show 
HG00099.hp1
HG00280.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01891.hp1
HG02109.hp1
HG02132.hp1
HG02258.hp1
HG02559.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03098.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30417_107-3041
others(10): Show 
c.107-30417_107-30412dupCACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437816
chr21:45437820 ACTCACAC
others(33): Show 
ACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACT
 A
A
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-30420_107-3038
others(44): Show 
c.107-30420_107-30381delTCACACTCAGACAAGCACTCTCCTGC
ACACACTCACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437820
chr21:45437822 T
T
 A
A
 71 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(68): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 71 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(68): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30420T>A
c.107-30420T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437822
chr21:45437831 G
G
 C
C
 68 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(65): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0007c0034t0001g0141
a0009c0016t0001g0084
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 68 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30411G>C
c.107-30411G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437831
chr21:45437831 G
G
 GACAC
GACAC
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30408_107-3040
others(8): Show 
c.107-30408_107-30407insCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437831
chr21:45437833 CAAGCACT
others(67): Show 
CAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCACT
CTCCTGCACACACACACTCACTCAG
 C
C
 1 a0006c0072t0002g0082
a0006c0072t0002g0082
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.107-30407_107-3033
others(78): Show 
c.107-30407_107-30334delAGCACTCTCCTGCACACACTCACACT
CACACTCAGACACACAGGCACTCTCCTGCACACACACACTCACTCAGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437833
chr21:45437835 A
A
 G
G
 79 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(76): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 79 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(76): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02451.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03834.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30407A>G
c.107-30407A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437835
chr21:45437836 GCA
GCA
 G
G
 3 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
 3 HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.107-30404_107-3040
others(6): Show 
c.107-30404_107-30403delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437836
chr21:45437848 ACACACT
ACACACT
 A
A
 39 a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0043
others(36): Show 
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 39 HG00099.hp2
HG00140.hp2
HG00438.hp2
others(36): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02602.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp2
HG03486.hp2
HG03579.hp2
HG04204.hp2
NA18954.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30379_107-3037
others(10): Show 
c.107-30379_107-30374delCACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437848
chr21:45437852 ACTCACAC
others(1): Show 
ACTCACACT
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30388_107-3038
others(12): Show 
c.107-30388_107-30381delTCACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437852
chr21:45437854 T
T
 A
A
 33 a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0193
others(30): Show 
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0008c0101t0005g0027
a0011c0104t0002g0003
a0026c0044t0001g0037
 33 HG00438.hp1
HG00544.hp1
HG00733.hp2
others(30): Show 
HG00438.hp1
HG00544.hp1
HG00733.hp2
HG01167.hp2
HG02055.hp1
HG02055.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02922.hp2
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03942.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30388T>A
c.107-30388T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437854
chr21:45437860 T
T
 A
A
 39 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(36): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0007c0034t0001g0141
a0009c0016t0001g0084
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 39 HG00099.hp2
HG00140.hp2
HG00438.hp2
others(36): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03017.hp2
HG03486.hp2
HG03579.hp2
HG04204.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30382T>A
c.107-30382T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437860
chr21:45437860 TCACACTC
others(3): Show 
TCACACTCAGA
 T
T
 5 a0001c0004t0001g0112
a0001c0022t0001g0008
a0001c0022t0001g0021
others(2): Show 
a0001c0004t0001g0112
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 5 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(2): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03834.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30376_107-3036
others(14): Show 
c.107-30376_107-30367delTCAGACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437860
chr21:45437862 A
A
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30380A>T
c.107-30380A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437862
chr21:45437863 C
C
 G
G
 28 a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0193
others(25): Show 
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0026c0044t0001g0037
 28 HG00438.hp1
HG00544.hp1
HG00733.hp2
others(25): Show 
HG00438.hp1
HG00544.hp1
HG00733.hp2
HG01167.hp2
HG02055.hp1
HG02055.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02922.hp2
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30379C>G
c.107-30379C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437863
chr21:45437865 CTCAGACA
others(35): Show 
CTCAGACACACAGGCACTCTCCTGCACACACACACTCACTCAG
 C
C
 28 a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0193
others(25): Show 
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0026c0044t0001g0037
 28 HG00438.hp1
HG00544.hp1
HG00733.hp2
others(25): Show 
HG00438.hp1
HG00544.hp1
HG00733.hp2
HG01167.hp2
HG02055.hp1
HG02055.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02922.hp2
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30376_107-3033
others(46): Show 
c.107-30376_107-30335delTCAGACACACAGGCACTCTCCTGCAC
ACACACACTCACTCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437865
chr21:45437866 T
T
 A
A
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-30376T>A
c.107-30376T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437866
chr21:45437866 TCAGA
TCAGA
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30373_107-3037
others(8): Show 
c.107-30373_107-30370delGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437866
chr21:45437869 G
G
 C
C
 46 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(43): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0021t0002g0148
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
 46 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(43): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30373G>C
c.107-30373G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437869
chr21:45437869 GAC
GAC
 G
G
 10 a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
others(7): Show 
a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0004c0099t0003g0030
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 10 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(7): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG01243.hp1
HG02895.hp2
HG02922.hp1
HG03239.hp1
HG03710.hp2
HG03831.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-30367_107-3036
others(6): Show 
c.107-30367_107-30366delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437869
chr21:45437870 A
A
 T
T
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-30372A>T
c.107-30372A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437870
chr21:45437871 C
C
 CACAGGCA
others(31): Show 
CACAGGCACTCTCCTGCACACACTCACACTCACACTCAG
 1 a0021c0086t0002g0176
a0021c0086t0002g0176
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.107-30368_107-3036
others(42): Show 
c.107-30368_107-30367insGGCACTCTCCTGCACACACTCACACT
CACACTCAGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437871
chr21:45437878 GCA
GCA
 G
G
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30362_107-3036
others(6): Show 
c.107-30362_107-30361delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437878
chr21:45437888 GCACACAC
others(37): Show 
GCACACACACACTCACTCAGACACAGGCACTCTCCTGCACACACA
 G
G
 1 a0011c0104t0002g0003
a0011c0104t0002g0003
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.107-30344_107-3030
others(48): Show 
c.107-30344_107-30301delACTCACTCAGACACAGGCACTCTCCT
GCACACACACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437888
chr21:45437891 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30351C>T
c.107-30351C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437891
chr21:45437898 ACT
ACT
 A
A
 39 a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0081
others(36): Show 
a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0001c0082t0008g0053
a0004c0100t0001g0039
a0006c0026t0001g0083
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0027c0070t0001g0012
a0030c0056t0001g0044
 39 HG00438.hp2
HG00597.hp1
HG00735.hp2
others(36): Show 
HG00438.hp2
HG00597.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
NA18906.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
 intron_variant MODIFIER c.107-30342_107-3034
others(6): Show 
c.107-30342_107-30341delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437898
chr21:45437898 ACTCACTC
others(37): Show 
ACTCACTCAGACACAGGCACTCTCCTGCACACACACACACACACT
 A
A
 4 a0001c0002t0012g0109
a0013c0051t0001g0195
a0036c0048t0004g0184
others(1): Show 
a0001c0002t0012g0109
a0013c0051t0001g0195
a0036c0048t0004g0184
a0037c0049t0004g0183
 4 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
 intron_variant MODIFIER c.107-30342_107-3029
others(48): Show 
c.107-30342_107-30299delTCACTCAGACACAGGCACTCTCCTGC
ACACACACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437898
chr21:45437899 CTCACTCA
others(39): Show 
CTCACTCAGACACAGGCACTCTCCTGCACACACACACACACACTCAG
 C
C
 3 a0001c0001t0001g0142
a0001c0007t0002g0078
a0032c0052t0002g0077
a0001c0001t0001g0142
a0001c0007t0002g0078
a0032c0052t0002g0077
 3 HG00140.hp2
HG02145.hp2
HG04204.hp2
HG00140.hp2
HG02145.hp2
HG04204.hp2
 intron_variant MODIFIER c.107-30342_107-3029
others(50): Show 
c.107-30342_107-30297delTCACTCAGACACAGGCACTCTCCTGC
ACACACACACACACACTCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437899
chr21:45437900 T
T
 A
A
 51 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(48): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0221
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
 51 HG00099.hp2
HG00423.hp1
HG00597.hp2
others(48): Show 
HG00099.hp2
HG00423.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30342T>A
c.107-30342T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437900
chr21:45437902 ACT
ACT
 A
A
 3 a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
 3 HG02165.hp2
HG03834.hp2
NA18954.hp2
HG02165.hp2
HG03834.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30338_107-3033
others(6): Show 
c.107-30338_107-30337delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437902
chr21:45437904 T
T
 A
A
 29 a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0081
others(26): Show 
a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0007c0034t0001g0141
a0009c0016t0001g0084
a0016c0042t0001g0118
a0030c0056t0001g0044
 29 HG00099.hp2
HG00438.hp2
HG00597.hp1
others(26): Show 
HG00099.hp2
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03486.hp2
HG03579.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
 intron_variant MODIFIER c.107-30338T>A
c.107-30338T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437904
chr21:45437905 C
C
 G
G
 3 a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
 3 HG02165.hp2
HG03834.hp2
NA18954.hp2
HG02165.hp2
HG03834.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30337C>G
c.107-30337C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437905
chr21:45437905 CAG
CAG
 C
C
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30335_107-3033
others(6): Show 
c.107-30335_107-30334delGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437905
chr21:45437907 G
G
 C
C
 32 a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0081
others(29): Show 
a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0007c0034t0001g0141
a0009c0016t0001g0084
a0016c0042t0001g0118
a0030c0056t0001g0044
 32 HG00099.hp2
HG00438.hp2
HG00597.hp1
others(29): Show 
HG00099.hp2
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02602.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03486.hp2
HG03579.hp2
HG03834.hp2
NA18954.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
 intron_variant MODIFIER c.107-30335G>C
c.107-30335G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437907
chr21:45437907 G
G
 GAC
GAC
 55 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(52): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
 55 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(52): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp2
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30331_107-3033
others(6): Show 
c.107-30331_107-30330dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437907
chr21:45437921 C
C
 G
G
 44 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(41): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
 44 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(41): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30321C>G
c.107-30321C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437921
chr21:45437924 G
G
 GCA
GCA
 7 a0001c0002t0017g0216
a0001c0027t0001g0019
a0001c0027t0001g0020
others(4): Show 
a0001c0002t0017g0216
a0001c0027t0001g0019
a0001c0027t0001g0020
a0002c0012t0004g0058
a0002c0103t0001g0136
a0023c0085t0002g0106
a0035c0078t0001g0115
 7 HG00639.hp2
HG01167.hp1
HG02258.hp1
others(4): Show 
HG00639.hp2
HG01167.hp1
HG02258.hp1
HG02723.hp2
HG03239.hp1
NA18747.hp1
NA18998.hp2
 intron_variant MODIFIER c.107-30302_107-3030
others(6): Show 
c.107-30302_107-30301dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437924
chr21:45437924 GCA
GCA
 G
G
 15 a0001c0001t0001g0124
a0001c0001t0001g0241
a0001c0002t0002g0133
others(12): Show 
a0001c0001t0001g0124
a0001c0001t0001g0241
a0001c0002t0002g0133
a0001c0002t0002g0269
a0001c0003t0001g0145
a0001c0003t0001g0221
a0001c0007t0002g0220
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0074t0004g0200
a0001c0082t0008g0053
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0006c0026t0003g0219
 15 HG00099.hp2
HG01106.hp2
HG02040.hp2
others(12): Show 
HG00099.hp2
HG01106.hp2
HG02040.hp2
HG02602.hp1
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03195.hp1
HG03540.hp1
HG03579.hp2
NA18949.hp2
NA19043.hp1
NA19088.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30302_107-3030
others(6): Show 
c.107-30302_107-30301delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437924
chr21:45437924 GCACA
GCACA
 G
G
 43 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(40): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
 43 HG00423.hp1
HG00609.hp1
HG00621.hp2
others(40): Show 
HG00423.hp1
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30304_107-3030
others(8): Show 
c.107-30304_107-30301delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437924
chr21:45437924 GCACACAC
others(1): Show 
GCACACACA
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30308_107-3030
others(12): Show 
c.107-30308_107-30301delACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437924
chr21:45437926 ACACACAC
others(31): Show 
ACACACACACACACACTCAGACACACAGGCACTCTCCTG
 A
A
 2 a0001c0001t0001g0191
a0030c0056t0001g0044
a0001c0001t0001g0191
a0030c0056t0001g0044
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.107-30304_107-3026
others(42): Show 
c.107-30304_107-30267delACACTCAGACACACAGGCACTCTCCT
GCACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437926
chr21:45437934 A
A
 T
T
 24 a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
others(21): Show 
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0025t0002g0159
a0001c0053t0001g0244
a0006c0026t0001g0083
a0007c0034t0001g0141
a0009c0016t0001g0084
a0016c0042t0001g0118
 24 HG00438.hp2
HG00597.hp1
HG00597.hp2
others(21): Show 
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG03017.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
 intron_variant MODIFIER c.107-30308A>T
c.107-30308A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437934
chr21:45437936 A
A
 T
T
 8 a0001c0003t0001g0145
a0001c0003t0001g0221
a0001c0004t0001g0112
others(5): Show 
a0001c0003t0001g0145
a0001c0003t0001g0221
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0220
a0001c0082t0008g0053
a0006c0026t0003g0219
 8 HG00099.hp2
HG01106.hp2
HG02165.hp2
others(5): Show 
HG00099.hp2
HG01106.hp2
HG02165.hp2
HG02818.hp1
HG03579.hp2
HG03834.hp2
NA18954.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30306A>T
c.107-30306A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437936
chr21:45437939 CACTCAG
CACTCAG
 C
C
 17 a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0011t0001g0009
others(14): Show 
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0011t0001g0009
a0001c0011t0001g0016
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0026c0044t0001g0037
 17 HG00544.hp1
HG00733.hp2
HG02055.hp2
others(14): Show 
HG00544.hp1
HG00733.hp2
HG02055.hp2
HG02922.hp2
HG02965.hp2
HG03209.hp1
HG03942.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
 intron_variant MODIFIER c.107-30300_107-3029
others(10): Show 
c.107-30300_107-30295delTCAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437939
chr21:45437940 ACT
ACT
 A
A
 6 a0001c0013t0002g0207
a0001c0069t0005g0038
a0008c0018t0005g0067
others(3): Show 
a0001c0013t0002g0207
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0209
 6 HG01123.hp1
HG01978.hp2
HG02109.hp2
others(3): Show 
HG01123.hp1
HG01978.hp2
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-30300_107-3029
others(6): Show 
c.107-30300_107-30299delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437940
chr21:45437941 CTCAG
CTCAG
 C
C
 9 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0011t0001g0017
others(6): Show 
a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0164
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0010t0006g0014
a0027c0070t0001g0012
 9 HG00438.hp1
HG01167.hp2
HG02055.hp1
others(6): Show 
HG00438.hp1
HG01167.hp2
HG02055.hp1
HG02257.hp1
HG02647.hp1
HG02683.hp1
HG03195.hp2
NA19010.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30300_107-3029
others(8): Show 
c.107-30300_107-30297delTCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437941
chr21:45437945 G
G
 C
C
 4 a0001c0002t0012g0109
a0013c0051t0001g0195
a0036c0048t0004g0184
others(1): Show 
a0001c0002t0012g0109
a0013c0051t0001g0195
a0036c0048t0004g0184
a0037c0049t0004g0183
 4 HG02257.hp2
HG02809.hp1
HG02809.hp2
others(1): Show 
HG02257.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
 intron_variant MODIFIER c.107-30297G>C
c.107-30297G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437945
chr21:45437951 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30291C>T
c.107-30291C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437951
chr21:45437955 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-30287C>T
c.107-30287C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437955
chr21:45437962 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-30280C>T
c.107-30280C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437962
chr21:45437964 GCA
GCA
 G
G
 63 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(60): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0048
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0072t0002g0082
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
 63 HG00140.hp2
HG00423.hp1
HG00438.hp1
others(60): Show 
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30268_107-3026
others(6): Show 
c.107-30268_107-30267delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437964
chr21:45437966 ACACACAC
others(33): Show 
ACACACACACTCACACACTCAGACACACAGGCACTCTCCTG
 A
A
 29 a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
others(26): Show 
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0007c0034t0001g0141
a0009c0016t0001g0084
a0016c0042t0001g0118
 29 HG00099.hp2
HG00438.hp2
HG00597.hp1
others(26): Show 
HG00099.hp2
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02818.hp1
HG03017.hp2
HG03579.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30266_107-3022
others(44): Show 
c.107-30266_107-30227delTCACACACTCAGACACACAGGCACTC
TCCTGCACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437966
chr21:45437973 C
C
 T
T
 2 a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0105
a0001c0002t0002g0188
 2 NA18998.hp1
NA19005.hp1
NA18998.hp1
NA19005.hp1
 intron_variant MODIFIER c.107-30269C>T
c.107-30269C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437973
chr21:45437974 ACT
ACT
 A
A
 6 a0001c0004t0001g0022
a0004c0100t0001g0039
a0013c0102t0004g0196
others(3): Show 
a0001c0004t0001g0022
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0021c0086t0002g0176
 6 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(3): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG04115.hp1
HG04184.hp2
 intron_variant MODIFIER c.107-30266_107-3026
others(6): Show 
c.107-30266_107-30265delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437974
chr21:45437974 ACTCACAC
others(197): Show 
ACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACACTCACTC
ACACACAGACACACAGGCACTCTCCTGCACACACTCACACTCACACTCAG
ACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCAC
TCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCATACAC
ACACT
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-30266_107-3006
others(4): Show 
c.107-30266_107-30063del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437974
chr21:45437976 T
T
 A
A
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30266T>A
c.107-30266T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437976
chr21:45437978 A
A
 T
T
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30264A>T
c.107-30264A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437978
chr21:45437981 CACTCAG
CACTCAG
 C
C
 3 a0001c0004t0001g0026
a0001c0063t0001g0144
a0019c0096t0015g0045
a0001c0004t0001g0026
a0001c0063t0001g0144
a0019c0096t0015g0045
 3 HG02280.hp1
HG02615.hp2
HG06807.hp1
HG02280.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.107-30258_107-3025
others(10): Show 
c.107-30258_107-30253delTCAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437981
chr21:45437983 CTCAG
CTCAG
 C
C
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30258_107-3025
others(8): Show 
c.107-30258_107-30255delTCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437983
chr21:45437984 TCAGA
TCAGA
 T
T
 5 a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
others(2): Show 
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 5 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG04228.hp1
 intron_variant MODIFIER c.107-30255_107-3025
others(8): Show 
c.107-30255_107-30252delGACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437984
chr21:45437985 CAG
CAG
 C
C
 52 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(49): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 52 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(49): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30255_107-3025
others(6): Show 
c.107-30255_107-30254delGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437985
chr21:45437987 GAC
GAC
 G
G
 8 a0001c0017t0002g0179
a0001c0069t0005g0038
a0002c0083t0001g0237
others(5): Show 
a0001c0017t0002g0179
a0001c0069t0005g0038
a0002c0083t0001g0237
a0002c0084t0002g0212
a0021c0086t0002g0176
a0023c0085t0002g0106
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG00639.hp2
HG00733.hp1
HG02109.hp2
others(5): Show 
HG00639.hp2
HG00733.hp1
HG02109.hp2
HG02809.hp1
HG02886.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
 intron_variant MODIFIER c.107-30249_107-3024
others(6): Show 
c.107-30249_107-30248delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45437987
chr21:45437989 C
C
 G
G
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30253C>G
c.107-30253C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45437989
chr21:45438003 C
C
 G
G
 54 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 54 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30239C>G
c.107-30239C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438003
chr21:45438006 G
G
 GCA
GCA
 40 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(37): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0007t0002g0078
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 40 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(37): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00642.hp1
HG00733.hp2
HG01167.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-30226_107-3022
others(6): Show 
c.107-30226_107-30225dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438006
chr21:45438012 ACACACT
ACACACT
 A
A
 3 a0001c0013t0002g0206
a0001c0013t0014g0210
a0029c0071t0002g0134
a0001c0013t0002g0206
a0001c0013t0014g0210
a0029c0071t0002g0134
 3 HG00099.hp1
HG00642.hp2
HG01192.hp2
HG00099.hp1
HG00642.hp2
HG01192.hp2
 intron_variant MODIFIER c.107-30226_107-3022
others(10): Show 
c.107-30226_107-30221delACTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438012
chr21:45438012 ACACACTC
others(365): Show 
ACACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCAC
ACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAG
ACACACAGGCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTC
TCCTGCATACACACACTCACACTCAGACACACAGGCACTCTCCTGCACAC
ACACACTCACACACTCAGACACACAGGCACTCTCCTGCACACACACACAC
TCACACTCAGACACACAGGCACTCTCCTGCACACACACACACTCAGACAC
ACAGGCACTCTCCTGCACACACACACACTCACACACTCAGACACACAGGC
ACTCTCCTGCACACACACACACT
 A
A
 3 a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0004t0001g0112
a0001c0005t0007g0262
a0001c0005t0007g0263
 3 HG02165.hp2
HG03834.hp2
NA18954.hp2
HG02165.hp2
HG03834.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-30224_107-2985
others(4): Show 
c.107-30224_107-29853del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438012
chr21:45438014 ACACT
ACACT
 A
A
 23 a0001c0001t0001g0124
a0001c0001t0002g0278
a0001c0001t0013g0276
others(20): Show 
a0001c0001t0001g0124
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0001g0095
a0001c0013t0002g0207
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0007c0031t0002g0123
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0101t0005g0027
a0009c0016t0001g0209
a0012c0088t0002g0006
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 23 HG00280.hp2
HG00408.hp2
HG01074.hp2
others(20): Show 
HG00280.hp2
HG00408.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01928.hp2
HG01978.hp2
HG02132.hp1
HG02965.hp1
HG03041.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA19064.hp1
NA19088.hp1
 intron_variant MODIFIER c.107-30220_107-3021
others(8): Show 
c.107-30220_107-30217delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438014
chr21:45438016 ACT
ACT
 A
A
 12 a0001c0003t0001g0048
a0001c0019t0003g0065
a0001c0019t0003g0139
others(9): Show 
a0001c0003t0001g0048
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG01891.hp1
HG02109.hp1
HG02559.hp1
others(9): Show 
HG01891.hp1
HG02109.hp1
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02895.hp1
HG02970.hp1
HG03098.hp1
HG03471.hp1
HG03540.hp1
HG03942.hp2
NA20129.hp1
 intron_variant MODIFIER c.107-30224_107-3022
others(6): Show 
c.107-30224_107-30223delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438016
chr21:45438026 A
A
 T
T
 1 a0001c0003t0001g0048
a0001c0003t0001g0048
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.107-30216A>T
c.107-30216A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438026
chr21:45438027 CACAGACA
others(153): Show 
CACAGACACACAGGCACTCTCCTGCACACACTCACACTCACACTCAGACA
AGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAGGCACTCT
CCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCATACACACA
CTCACACTCAG
 C
C
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30211_107-3005
others(4): Show 
c.107-30211_107-30052del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438027
chr21:45438028 A
A
 ACT
ACT
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 5 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(2): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30213_107-3021
others(6): Show 
c.107-30213_107-30212insTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438028
chr21:45438031 G
G
 C
C
 1 a0001c0003t0001g0048
a0001c0003t0001g0048
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.107-30211G>C
c.107-30211G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438031
chr21:45438060 ACACT
ACACT
 A
A
 3 a0001c0002t0002g0140
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0002t0002g0140
a0001c0003t0001g0110
a0001c0003t0001g0287
 3 HG00738.hp2
HG01258.hp2
HG01346.hp2
HG00738.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-30178_107-3017
others(8): Show 
c.107-30178_107-30175delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438060
chr21:45438073 GACAA
GACAA
 G
G
 7 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(4): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 7 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(4): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30168_107-3016
others(8): Show 
c.107-30168_107-30165delACAA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438073
chr21:45438077 A
A
 G
G
 54 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 54 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30165A>G
c.107-30165A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438077
chr21:45438090 ACACACT
ACACACT
 A
A
 59 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(56): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0005
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 59 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(56): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02965.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30137_107-3013
others(10): Show 
c.107-30137_107-30132delCACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438090
chr21:45438092 ACACT
ACACT
 A
A
 6 a0001c0037t0001g0062
a0011c0040t0001g0046
a0011c0040t0001g0076
others(3): Show 
a0001c0037t0001g0062
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
 intron_variant MODIFIER c.107-30146_107-3014
others(8): Show 
c.107-30146_107-30143delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438092
chr21:45438096 TCACACTC
others(69): Show 
TCACACTCACACTCAGACACACAGGCACTCTCCTGCACACACACACTCAC
TCAGACACAGGCACTCTCCTGCATACA
 T
T
 1 a0001c0002t0002g0060
a0001c0002t0002g0060
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.107-30096_107-3002
others(80): Show 
c.107-30096_107-30021delTCAGACACAGGCACTCTCCTGCATAC
ACACACTCACACTCAGACACACAGGCACTCTCCTGCACACACACACTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438096
chr21:45438116 ACAGG
ACAGG
 A
A
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-30123_107-3012
others(8): Show 
c.107-30123_107-30120delGGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438116
chr21:45438130 GCA
GCA
 G
G
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-30102_107-3010
others(6): Show 
c.107-30102_107-30101delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438130
chr21:45438144 ACT
ACT
 A
A
 54 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 54 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30096_107-3009
others(6): Show 
c.107-30096_107-30095delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438144
chr21:45438147 C
C
 G
G
 54 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 54 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30095C>G
c.107-30095C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438147
chr21:45438149 G
G
 C
C
 54 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 54 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30093G>C
c.107-30093G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438149
chr21:45438166 GCATACA
GCATACA
 G
G
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 5 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(2): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30073_107-3006
others(10): Show 
c.107-30073_107-30068delTACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438166
chr21:45438169 T
T
 C
C
 56 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(53): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 56 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(53): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-30073T>C
c.107-30073T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438169
chr21:45438178 T
T
 A
A
 6 a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
others(3): Show 
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30064T>A
c.107-30064T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438178
chr21:45438189 C
C
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30053C>G
c.107-30053C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438189
chr21:45438214 ACACT
ACACT
 A
A
 8 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
others(5): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG02258.hp2
HG02280.hp1
HG02559.hp2
others(5): Show 
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-30024_107-3002
others(8): Show 
c.107-30024_107-30021delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438214
chr21:45438216 ACT
ACT
 A
A
 4 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(1): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
 4 HG01258.hp2
HG01346.hp2
HG02970.hp2
others(1): Show 
HG01258.hp2
HG01346.hp2
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-30024_107-3002
others(6): Show 
c.107-30024_107-30023delTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438216
chr21:45438218 TCA
TCA
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-30018_107-3001
others(6): Show 
c.107-30018_107-30017delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438218
chr21:45438222 ACACT
ACACT
 A
A
 10 a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
others(7): Show 
a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0099t0003g0030
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 10 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(7): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG01243.hp1
HG02895.hp2
HG02922.hp1
HG03239.hp1
HG03710.hp2
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-30017_107-3001
others(8): Show 
c.107-30017_107-30014delCTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438222
chr21:45438226 T
T
 A
A
 1 a0002c0084t0002g0212
a0002c0084t0002g0212
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.107-30016T>A
c.107-30016T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438226
chr21:45438229 G
G
 T
T
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.107-30013G>T
c.107-30013G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438229
chr21:45438229 GAC
GAC
 G
G
 7 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(4): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 7 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(4): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-30007_107-3000
others(6): Show 
c.107-30007_107-30006delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438229
chr21:45438254 A
A
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-29988A>T
c.107-29988A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438254
chr21:45438254 ACACACAC
others(123): Show 
ACACACACTCACACTCAGACACACAGGCACTCTCCTGCACACACACACAC
TCAGACACACAGGCACTCTCCTGCACACACACACACTCACACACTCAGAC
ACACAGGCACTCTCCTGCACACACACACACT
 A
A
 54 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(51): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 54 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(51): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-29977_107-2984
others(4): Show 
c.107-29977_107-29848del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438254
chr21:45438256 ACACACT
ACACACT
 A
A
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0098t0001g0007
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0098t0001g0007
 3 HG01258.hp2
HG01346.hp2
HG02451.hp2
HG01258.hp2
HG01346.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-29977_107-2997
others(10): Show 
c.107-29977_107-29972delCACTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438256
chr21:45438260 A
A
 T
T
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 5 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(2): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-29982A>T
c.107-29982A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438260
chr21:45438262 T
T
 A
A
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 5 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(2): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-29980T>A
c.107-29980T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438262
chr21:45438262 T
T
 TCA
TCA
 80 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(77): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0013c0051t0001g0195
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 80 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(77): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-29976_107-2997
others(6): Show 
c.107-29976_107-29975dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438262
chr21:45438266 ACTCAGAC
others(31): Show 
ACTCAGACACACAGGCACTCTCCTGCACACACACACACT
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-29974_107-2993
others(42): Show 
c.107-29974_107-29937delTCAGACACACAGGCACTCTCCTGCAC
ACACACACACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438266
chr21:45438304 T
T
 TCACA
TCACA
 7 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(4): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
 7 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(4): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.107-29936_107-2993
others(8): Show 
c.107-29936_107-29935insCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438304
chr21:45438340 T
T
 A
A
 2 a0001c0025t0002g0164
a0016c0042t0001g0118
a0001c0025t0002g0164
a0016c0042t0001g0118
 2 HG00438.hp1
HG01361.hp2
HG00438.hp1
HG01361.hp2
 intron_variant MODIFIER c.107-29902T>A
c.107-29902T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438340
chr21:45438340 TCACA
TCACA
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-29898_107-2989
others(8): Show 
c.107-29898_107-29895delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438340
chr21:45438344 A
A
 ACACT
ACACT
 212 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
others(209): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0029c0071t0002g0134
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 212 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(209): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-29895_107-2989
others(8): Show 
c.107-29895_107-29892dupCTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438344
chr21:45438344 A
A
 T
T
 2 a0001c0025t0002g0164
a0016c0042t0001g0118
a0001c0025t0002g0164
a0016c0042t0001g0118
 2 HG00438.hp1
HG01361.hp2
HG00438.hp1
HG01361.hp2
 intron_variant MODIFIER c.107-29898A>T
c.107-29898A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438344
chr21:45438351 G
G
 C
C
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-29891G>C
c.107-29891G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438351
chr21:45438353 C
C
 G
G
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-29889C>G
c.107-29889C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438353
chr21:45438380 ACACT
ACACT
 A
A
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-29858_107-2985
others(8): Show 
c.107-29858_107-29855delTCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45438380
chr21:45438428 C
C
 T
T
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-29814C>T
c.107-29814C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438428
chr21:45438429 G
G
 A
A
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-29813G>A
c.107-29813G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438429
chr21:45438468 C
C
 G
G
 288 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(285): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 288 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(285): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
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.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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-29774C>G
c.107-29774C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438468
chr21:45438601 A
A
 G
G
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-29641A>G
c.107-29641A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438601
chr21:45438718 G
G
 C
C
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-29524G>C
c.107-29524G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438718
chr21:45438805 G
G
 A
A
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.107-29437G>A
c.107-29437G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438805
chr21:45438954 G
G
 A
A
 1 a0001c0002t0006g0233
a0001c0002t0006g0233
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.107-29288G>A
c.107-29288G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438954
chr21:45438996 A
A
 G
G
 4 a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
others(1): Show 
a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
a0007c0034t0001g0141
 4 HG00597.hp1
HG02135.hp1
HG02155.hp2
others(1): Show 
HG00597.hp1
HG02135.hp1
HG02155.hp2
NA19010.hp1
 intron_variant MODIFIER c.107-29246A>G
c.107-29246A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45438996
chr21:45439137 T
T
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-29105T>G
c.107-29105T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439137
chr21:45439249 C
C
 T
T
 7 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
others(4): Show 
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0007t0002g0208
a0006c0072t0002g0082
a0009c0016t0001g0084
a0016c0042t0001g0118
 7 HG00642.hp1
HG00735.hp2
HG00738.hp1
others(4): Show 
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01361.hp2
NA18961.hp2
 intron_variant MODIFIER c.107-28993C>T
c.107-28993C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439249
chr21:45439447 A
A
 G
G
 1 a0003c0047t0001g0069
a0003c0047t0001g0069
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.107-28795A>G
c.107-28795A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439447
chr21:45439469 A
A
 T
T
 63 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(60): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 63 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(60): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-28773A>T
c.107-28773A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439469
chr21:45439493 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-28749C>T
c.107-28749C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439493
chr21:45439505 A
A
 C
C
 158 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(155): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 158 HG00099.hp2
HG00140.hp2
HG00323.hp2
others(155): Show 
HG00099.hp2
HG00140.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-28737A>C
c.107-28737A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439505
chr21:45439506 T
T
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-28736T>G
c.107-28736T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439506
chr21:45439620 T
T
 TCCTGGGC
others(78): Show 
TCCTGGGCCAAGTCCTGTGCGCGGGGCCTCCGGGTCTGCGAGCTGCGGCC
GTGTTCAGAGCGTGTTTTGCCCGGAGCTGCTGCCAG
 2 a0001c0002t0002g0074
a0001c0002t0002g0102
a0001c0002t0002g0074
a0001c0002t0002g0102
 2 HG00323.hp1
HG01255.hp1
HG00323.hp1
HG01255.hp1
 intron_variant MODIFIER c.107-28614_107-2853
others(89): Show 
c.107-28614_107-28530dupCAAGTCCTGTGCGCGGGGCCTCCGGG
TCTGCGAGCTGCGGCCGTGTTCAGAGCGTGTTTTGCCCGGAGCTGCTGCC
AGCCTGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45439620
chr21:45439627 C
C
 T
T
 13 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(10): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 13 HG01258.hp2
HG01346.hp2
HG02451.hp2
others(10): Show 
HG01258.hp2
HG01346.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-28615C>T
c.107-28615C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439627
chr21:45439633 C
C
 A
A
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-28609C>A
c.107-28609C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439633
chr21:45439803 G
G
 A
A
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-28439G>A
c.107-28439G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439803
chr21:45439853 C
C
 G
G
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-28389C>G
c.107-28389C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439853
chr21:45439904 G
G
 A
A
 56 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(53): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 56 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(53): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-28338G>A
c.107-28338G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439904
chr21:45439984 C
C
 T
T
 2 a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0023t0002g0138
a0004c0023t0002g0163
 2 HG01891.hp2
HG03225.hp1
HG01891.hp2
HG03225.hp1
 intron_variant MODIFIER c.107-28258C>T
c.107-28258C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439984
chr21:45439993 C
C
 T
T
 65 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(62): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 65 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(62): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-28249C>T
c.107-28249C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45439993
chr21:45440025 G
G
 A
A
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.107-28217G>A
c.107-28217G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440025
chr21:45440417 C
C
 T
T
 1 a0001c0002t0002g0105
a0001c0002t0002g0105
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.107-27825C>T
c.107-27825C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440417
chr21:45440469 C
C
 CAAGCAGT
others(280): Show 
CAAGCAGTCAGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTC
GGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGC
TGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTG
AGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTT
CCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAG
CAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-27765_107-2776
others(291): Show 
c.107-27765_107-27764insAGGGCCTGCTGGGGTTTGAGCCACGT
TCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAA
GCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGG
GCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGG
GGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGC
CACGTTCCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCC
CGGAAGCAGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440469
chr21:45440469 C
C
 CAAGCAGT
others(34): Show 
CAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
 68 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(65): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 68 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(65): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-27643_107-2760
others(45): Show 
c.107-27643_107-27603dupTCGGGGCCTGCTGGGGTTTGAGCCAC
GTTCCCCGGAAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440469
chr21:45440469 C
C
 CAAGCAGT
others(75): Show 
CAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTC
GGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0012c0088t0002g0006
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
 69 HG00099.hp2
HG00140.hp2
HG00438.hp2
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-27684_107-2760
others(86): Show 
c.107-27684_107-27603dupTCGGGGCCTGCTGGGGTTTGAGCCAC
GTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
AAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440469
chr21:45440469 CAAGCAGT
others(34): Show 
CAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
 C
C
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.107-27643_107-2760
others(45): Show 
c.107-27643_107-27603delTCGGGGCCTGCTGGGGTTTGAGCCAC
GTTCCCCGGAAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440469
chr21:45440478 G
G
 A
A
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-27764G>A
c.107-27764G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440478
chr21:45440561 G
G
 GGGCCTGC
others(34): Show 
GGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGT
 1 a0001c0005t0002g0217
a0001c0005t0002g0217
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.107-27641_107-2764
others(45): Show 
c.107-27641_107-27640insTGGCCTGCTGGGGTTTGAGCCACGTT
CCCCGGAAGCAGTCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440561
chr21:45440614 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-27628G>A
c.107-27628G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440614
chr21:45440632 G
G
 GGAAGCAG
others(116): Show 
GGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGC
TGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGCTGGGGCCTG
CTGGGGTTTGAGCCACGTTCCCCA
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-27603_107-2760
others(127): Show 
c.107-27603_107-27602insTCGGGGCCTGCTGGGGTTTGAGCCAC
GTTCCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
AAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCAGAAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440632
chr21:45440640 C
C
 T
T
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-27602C>T
c.107-27602C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440640
chr21:45440641 T
T
 C
C
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-27601T>C
c.107-27601T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440641
chr21:45440642 G
G
 GGGGCCTG
others(239): Show 
GGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGCTGGGGCCTGC
TGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTG
AGCCACGTTCCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTT
CCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTTCCCGGAAG
CAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCAGAAGCAGTCA
 4 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(1): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
 4 HG01258.hp2
HG01346.hp2
HG02970.hp2
others(1): Show 
HG01258.hp2
HG01346.hp2
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-27562_107-2756
others(250): Show 
c.107-27562_107-27561insCTGGGGCCTGCTGGGGTTTGAGCCAC
GTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG
AAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGCTG
GGGCCTGCTGGGGTTTGAGCCACGTTTCCCGGAAGCAGCTGGGGCCTGCT
GGGGTTTGAGCCACGTTCCCCAGAAGCAGTCAGGGCCTGCTGGGGTTTGA
GCCACGTTCCCCGGAAGCAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45440642
chr21:45440724 A
A
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-27518A>G
c.107-27518A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440724
chr21:45440842 A
A
 G
G
 153 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(150): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 153 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(150): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-27400A>G
c.107-27400A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440842
chr21:45440946 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-27296C>G
c.107-27296C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440946
chr21:45440982 A
A
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-27260A>G
c.107-27260A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440982
chr21:45440991 C
C
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0017g0216
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18747.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-27251C>T
c.107-27251C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45440991
chr21:45441044 C
C
 G
G
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-27198C>G
c.107-27198C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441044
chr21:45441064 C
C
 T
T
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.107-27178C>T
c.107-27178C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441064
chr21:45441161 C
C
 T
T
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-27081C>T
c.107-27081C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441161
chr21:45441205 A
A
 G
G
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-27037A>G
c.107-27037A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441205
chr21:45441306 G
G
 C
C
 1 a0001c0005t0002g0280
a0001c0005t0002g0280
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.107-26936G>C
c.107-26936G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441306
chr21:45441510 C
C
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-26732C>T
c.107-26732C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441510
chr21:45441527 C
C
 T
T
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-26715C>T
c.107-26715C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441527
chr21:45441547 C
C
 T
T
 1 a0001c0002t0002g0088
a0001c0002t0002g0088
 1 HG01517.hp2
HG01517.hp2
 intron_variant MODIFIER c.107-26695C>T
c.107-26695C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441547
chr21:45441562 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-26680C>T
c.107-26680C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441562
chr21:45441638 G
G
 A
A
 1 a0001c0006t0003g0259
a0001c0006t0003g0259
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.107-26604G>A
c.107-26604G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441638
chr21:45441751 C
C
 T
T
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.107-26491C>T
c.107-26491C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441751
chr21:45441821 A
A
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-26421A>T
c.107-26421A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441821
chr21:45441864 G
G
 A
A
 1 a0001c0002t0006g0233
a0001c0002t0006g0233
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.107-26378G>A
c.107-26378G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441864
chr21:45441879 T
T
 C
C
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.107-26363T>C
c.107-26363T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45441879
chr21:45442014 G
G
 A
A
 49 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(46): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 49 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(46): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-26228G>A
c.107-26228G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442014
chr21:45442017 A
A
 T
T
 67 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(64): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 67 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(64): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-26225A>T
c.107-26225A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442017
chr21:45442169 C
C
 T
T
 1 a0001c0003t0001g0043
a0001c0003t0001g0043
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.107-26073C>T
c.107-26073C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442169
chr21:45442202 G
G
 A
A
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.107-26040G>A
c.107-26040G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442202
chr21:45442227 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-26015C>T
c.107-26015C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442227
chr21:45442237 C
C
 A
A
 1 a0003c0010t0002g0172
a0003c0010t0002g0172
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.107-26005C>A
c.107-26005C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442237
chr21:45442241 G
G
 A
A
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-26001G>A
c.107-26001G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442241
chr21:45442242 C
C
 A
A
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-26000C>A
c.107-26000C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442242
chr21:45442244 C
C
 T
T
 2 a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0105
a0001c0002t0002g0188
 2 NA18998.hp1
NA19005.hp1
NA18998.hp1
NA19005.hp1
 intron_variant MODIFIER c.107-25998C>T
c.107-25998C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442244
chr21:45442255 C
C
 T
T
 2 a0036c0048t0004g0184
a0037c0049t0004g0183
a0036c0048t0004g0184
a0037c0049t0004g0183
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.107-25987C>T
c.107-25987C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442255
chr21:45442286 C
C
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-25956C>T
c.107-25956C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442286
chr21:45442307 C
C
 T
T
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-25935C>T
c.107-25935C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442307
chr21:45442595 TGGTGCTG
others(158): Show 
TGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGCAGCGGGGCTGGTGTGG
GCAGCGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGCGGTGGTGGTGCT
GGTGTGGGCGGAGGTCCTGGTGTGGGCGGCGGTCCTGGTGTGGGCAGCGG
GGCTGGTGTGGGCAGC
 T
T
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.107-25613_107-2544
others(4): Show 
c.107-25613_107-25449del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442595
chr21:45442599 GCTGGTGT
others(104): Show 
GCTGGTGTGGGCGGCGGTCCTGGTGTGGGCAGCGGGGCTGGTGTGGGCAG
CGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGCGGTGGTGGTGCTGGTG
TGGGCGGAGGTC
 G
G
 98 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(95): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0100t0001g0039
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 98 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(95): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19064.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-25502_107-2539
others(4): Show 
c.107-25502_107-25392del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442599
chr21:45442725 G
G
 A
A
 3 a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
 3 HG01515.hp1
HG01517.hp1
HG03654.hp2
HG01515.hp1
HG01517.hp1
HG03654.hp2
 intron_variant MODIFIER c.107-25517G>A
c.107-25517G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442725
chr21:45442728 CCTGGTGT
others(11): Show 
CCTGGTGTGGGCAGCGGGG
 C
C
 8 a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
others(5): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(5): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-25497_107-2548
others(22): Show 
c.107-25497_107-25480delGGCTGGTGTGGGCAGCGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442728
chr21:45442739 CAGCGGGG
others(161): Show 
CAGCGGGGCTGGTGTGGGCAGCGGTGCTGGTGTGGGCGGCGGTCCTGGTG
TGGGCGGTGGTGGTGCTGGTGTGGGCGGAGGTCCTGGTGTGGGCGGCGGT
CCTGGTGTGGGCGGAGGTCCTGGTGTGGGCGGTGGTGGTGCTGGTGTGGG
CAGCGGTGCTGATGTGGGT
 C
C
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.107-25502_107-2533
others(4): Show 
c.107-25502_107-25335del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442739
chr21:45442740 A
A
 G
G
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25502A>G
c.107-25502A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442740
chr21:45442742 C
C
 A
A
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25500C>A
c.107-25500C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442742
chr21:45442745 G
G
 T
T
 59 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(56): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 59 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(56): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25497G>T
c.107-25497G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442745
chr21:45442746 G
G
 C
C
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25496G>C
c.107-25496G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442746
chr21:45442757 C
C
 CGGTGGTG
others(89): Show 
CGGTGGTGGTGCTGGTGTGGGCAGCGGTGCTGATGTGGGTGGTGGTGCTG
GTGTGGGTGGCGGTGCTGGTGTGGGCGGCGGTGCTGATGTGGGTGGT
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25485_107-2548
others(100): Show 
c.107-25485_107-25484insGGTGGTGGTGCTGGTGTGGGCAGCGG
TGCTGATGTGGGTGGTGGTGCTGGTGTGGGTGGCGGTGCTGGTGTGGGCG
GCGGTGCTGATGTGGGTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442757
chr21:45442758 A
A
 G
G
 59 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(56): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 59 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(56): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25484A>G
c.107-25484A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442758
chr21:45442760 C
C
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25482C>T
c.107-25482C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442760
chr21:45442764 G
G
 C
C
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-25478G>C
c.107-25478G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442764
chr21:45442767 G
G
 T
T
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.107-25475G>T
c.107-25475G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442767
chr21:45442768 G
G
 A
A
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25474G>A
c.107-25474G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442768
chr21:45442775 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-25467C>T
c.107-25467C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442775
chr21:45442776 G
G
 A
A
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.107-25466G>A
c.107-25466G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442776
chr21:45442778 CGGTCCTG
others(32): Show 
CGGTCCTGGTGTGGGCGGTGGTGGTGCTGGTGTGGGCGGA
 C
C
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-25446_107-2540
others(43): Show 
c.107-25446_107-25408delTGGTGGTGCTGGTGTGGGCGGAGGTC
CTGGTGTGGGCGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442778
chr21:45442782 C
C
 G
G
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25460C>G
c.107-25460C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442782
chr21:45442790 GGGC
GGGC
 G
G
 8 a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
others(5): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(5): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-25449_107-2544
others(7): Show 
c.107-25449_107-25447delCGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442790
chr21:45442799 T
T
 C
C
 8 a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
others(5): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(5): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-25443T>C
c.107-25443T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442799
chr21:45442811 G
G
 GGGT
GGGT
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25429_107-2542
others(7): Show 
c.107-25429_107-25428insTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442811
chr21:45442814 C
C
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25428C>T
c.107-25428C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442814
chr21:45442817 A
A
 C
C
 8 a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
others(5): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(5): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-25425A>C
c.107-25425A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442817
chr21:45442817 A
A
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25425A>T
c.107-25425A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442817
chr21:45442821 C
C
 G
G
 67 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(64): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 67 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(64): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-25421C>G
c.107-25421C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442821
chr21:45442825 G
G
 A
A
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25417G>A
c.107-25417G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442825
chr21:45442832 C
C
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25410C>T
c.107-25410C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442832
chr21:45442835 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-25407C>T
c.107-25407C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442835
chr21:45442839 C
C
 G
G
 67 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(64): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 67 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(64): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-25403C>G
c.107-25403C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442839
chr21:45442850 C
C
 CGGT
CGGT
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25390_107-2538
others(7): Show 
c.107-25390_107-25389insTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442850
chr21:45442853 A
A
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25389A>T
c.107-25389A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442853
chr21:45442857 C
C
 G
G
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25385C>G
c.107-25385C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442857
chr21:45442868 C
C
 T
T
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25374C>T
c.107-25374C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442868
chr21:45442878 G
G
 GCTGATGT
others(29): Show 
GCTGATGTGGGTGGCGGTGCTGGTGTGGGCGGAGGTC
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25361_107-2536
others(40): Show 
c.107-25361_107-25360insATGTGGGTGGCGGTGCTGGTGTGGGC
GGAGGTCCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442878
chr21:45442890 A
A
 G
G
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25352A>G
c.107-25352A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442890
chr21:45442892 C
C
 G
G
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-25350C>G
c.107-25350C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442892
chr21:45442892 CGGTGCTG
others(125): Show 
CGGTGCTGATGTGGGTGGTGGTGCTGGTGTGGGCGGTGGTGGTGCTGGTG
TGGGCAGCGGTGCTGATGTGGGTGGTGGTGCTGGTGTGGGTGGCGGTGCT
GGTGTGGGCGGCGGTGCTGATGTGGGTGGTGGT
 C
C
 9 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(6): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0014c0039t0009g0197
 9 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(6): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-25335_107-2520
others(4): Show 
c.107-25335_107-25204del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442892
chr21:45442896 G
G
 C
C
 57 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(54): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(54): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25346G>C
c.107-25346G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442896
chr21:45442900 A
A
 G
G
 59 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(56): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 59 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(56): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25342A>G
c.107-25342A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442900
chr21:45442907 T
T
 C
C
 67 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(64): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 67 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(64): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-25335T>C
c.107-25335T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442907
chr21:45442910 T
T
 A
A
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25332T>A
c.107-25332T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442910
chr21:45442910 T
T
 C
C
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-25332T>C
c.107-25332T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442910
chr21:45442914 G
G
 C
C
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25328G>C
c.107-25328G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442914
chr21:45442918 GTGTGGGC
others(107): Show 
GTGTGGGCGGTGGTGGTGCTGGTGTGGGCAGCGGTGCTGATGTGGGTGGT
GGTGCTGGTGTGGGTGGCGGTGCTGGTGTGGGCGGCGGTGCTGATGTGGG
TGGTGGTGGTGCTGA
 G
G
 2 a0013c0102t0004g0196
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0198
 2 HG02630.hp1
HG02895.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-25314_107-2520
others(4): Show 
c.107-25314_107-25201del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442918
chr21:45442925 CGGT
CGGT
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25309_107-2530
others(7): Show 
c.107-25309_107-25307delGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442925
chr21:45442931 T
T
 A
A
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25311T>A
c.107-25311T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442931
chr21:45442935 G
G
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25307G>C
c.107-25307G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442935
chr21:45442946 CAGCGGTG
others(26): Show 
CAGCGGTGCTGATGTGGGTGGTGGTGCTGGTGTG
 C
C
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0020c0094t0011g0075
 5 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25295_107-2526
others(37): Show 
c.107-25295_107-25263delAGCGGTGCTGATGTGGGTGGTGGTGC
TGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442946
chr21:45442946 CAGCGGTG
others(83): Show 
CAGCGGTGCTGATGTGGGTGGTGGTGCTGGTGTGGGTGGCGGTGCTGGTG
TGGGCGGCGGTGCTGATGTGGGTGGTGGTGGTGCTGATGTG
 C
C
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0019c0096t0015g0045
a0001c0003t0001g0110
a0001c0003t0001g0287
a0019c0096t0015g0045
 3 HG01258.hp2
HG01346.hp2
HG02280.hp1
HG01258.hp2
HG01346.hp2
HG02280.hp1
 intron_variant MODIFIER c.107-25295_107-2520
others(94): Show 
c.107-25295_107-25206delAGCGGTGCTGATGTGGGTGGTGGTGC
TGGTGTGGGTGGCGGTGCTGGTGTGGGCGGCGGTGCTGATGTGGGTGGTG
GTGGTGCTGATGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442946
chr21:45442957 ATGTGGGT
others(11): Show 
ATGTGGGTGGTGGTGCTGG
 A
A
 1 a0007c0031t0002g0160
a0007c0031t0002g0160
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.107-25275_107-2525
others(22): Show 
c.107-25275_107-25258delTGGTGCTGGTGTGGGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442957
chr21:45442967 TGGTGCTG
others(11): Show 
TGGTGCTGGTGTGGGTGGC
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-25260_107-2524
others(22): Show 
c.107-25260_107-25243delTGGCGGTGCTGGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45442967
chr21:45442985 C
C
 T
T
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0020c0094t0011g0075
 5 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25257C>T
c.107-25257C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45442985
chr21:45443011 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-25231A>G
c.107-25231A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443011
chr21:45443015 G
G
 T
T
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.107-25227G>T
c.107-25227G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443015
chr21:45443032 A
A
 G
G
 5 a0001c0037t0001g0062
a0001c0037t0001g0157
a0004c0100t0001g0039
others(2): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0004c0100t0001g0039
a0014c0039t0009g0197
a0030c0056t0001g0044
 5 HG02559.hp1
HG02970.hp2
HG03098.hp1
others(2): Show 
HG02559.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
HG03486.hp2
 intron_variant MODIFIER c.107-25210A>G
c.107-25210A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443032
chr21:45443039 C
C
 T
T
 5 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(2): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0019c0096t0015g0045
 5 HG01258.hp2
HG01346.hp2
HG02280.hp1
others(2): Show 
HG01258.hp2
HG01346.hp2
HG02280.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-25203C>T
c.107-25203C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443039
chr21:45443042 C
C
 T
T
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0019c0096t0015g0045
a0001c0003t0001g0110
a0001c0003t0001g0287
a0019c0096t0015g0045
 3 HG01258.hp2
HG01346.hp2
HG02280.hp1
HG01258.hp2
HG01346.hp2
HG02280.hp1
 intron_variant MODIFIER c.107-25200C>T
c.107-25200C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443042
chr21:45443050 GTGTGGGC
others(35): Show 
GTGTGGGCGGTGGTGGTGCTGGTGTGGGTGGTGGTGGTGCTGA
 G
G
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0020c0094t0011g0075
 5 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25182_107-2514
others(46): Show 
c.107-25182_107-25141delTGGTGGTGCTGGTGTGGGTGGTGGTG
GTGCTGATGTGGGCGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443050
chr21:45443057 CGGT
CGGT
 C
C
 16 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(13): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
 16 HG01258.hp2
HG01346.hp2
HG02280.hp1
others(13): Show 
HG01258.hp2
HG01346.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-25177_107-2517
others(7): Show 
c.107-25177_107-25175delGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443057
chr21:45443063 T
T
 C
C
 16 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(13): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
 16 HG01258.hp2
HG01346.hp2
HG02280.hp1
others(13): Show 
HG01258.hp2
HG01346.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-25179T>C
c.107-25179T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443063
chr21:45443071 G
G
 A
A
 14 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(11): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
 14 HG01258.hp2
HG01346.hp2
HG02280.hp1
others(11): Show 
HG01258.hp2
HG01346.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-25171G>A
c.107-25171G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443071
chr21:45443084 TGGTGCTG
others(29): Show 
TGGTGCTGATGTGGGCGGCGGTGCTGGTGTGGGCGGC
 T
T
 1 a0001c0002t0002g0114
a0001c0002t0002g0114
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.107-25150_107-2511
others(40): Show 
c.107-25150_107-25115delATGTGGGCGGCGGTGCTGGTGTGGGC
GGCGGTGCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443084
chr21:45443092 A
A
 G
G
 1 a0001c0002t0002g0236
a0001c0002t0002g0236
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.107-25150A>G
c.107-25150A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443092
chr21:45443092 ATGTGGGC
others(11): Show 
ATGTGGGCGGCGGTGCTGG
 A
A
 13 a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0128
others(10): Show 
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0023
a0001c0002t0002g0178
a0001c0008t0002g0240
a0001c0027t0001g0019
a0001c0027t0001g0020
a0006c0028t0003g0230
a0022c0068t0010g0004
a0024c0066t0010g0066
 13 HG00140.hp1
HG00639.hp1
HG01070.hp1
others(10): Show 
HG00140.hp1
HG00639.hp1
HG01070.hp1
HG01081.hp2
HG01243.hp2
HG02258.hp1
HG02683.hp2
HG02723.hp2
HG02895.hp2
HG03239.hp2
HG03710.hp1
HG04115.hp2
NA19240.hp2
 intron_variant MODIFIER c.107-25089_107-2507
others(22): Show 
c.107-25089_107-25072delCGGCGGTGCTGGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443092
chr21:45443092 ATGTGGGC
others(29): Show 
ATGTGGGCGGCGGTGCTGGTGTGGGCGGCGGTGCTGG
 A
A
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0002g0235
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-25107_107-2507
others(40): Show 
c.107-25107_107-25072delCGGCGGTGCTGGTGTGGGCGGCGGTG
CTGGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443092
chr21:45443099 C
C
 T
T
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-25143C>T
c.107-25143C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443099
chr21:45443102 C
C
 T
T
 1 a0001c0004t0001g0213
a0001c0004t0001g0213
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.107-25140C>T
c.107-25140C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443102
chr21:45443103 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-25139G>A
c.107-25139G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443103
chr21:45443106 G
G
 C
C
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0020c0094t0011g0075
 5 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-25136G>C
c.107-25136G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443106
chr21:45443117 C
C
 CGGTGGTG
others(17): Show 
CGGTGGTGGTGCTGGTGTGGGTGGT
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-25123_107-2512
others(28): Show 
c.107-25123_107-25122insTGGTGGTGCTGGTGTGGGTGGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443117
chr21:45443118 G
G
 T
T
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-25124G>T
c.107-25124G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443118
chr21:45443120 C
C
 T
T
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-25122C>T
c.107-25122C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443120
chr21:45443121 G
G
 A
A
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-25121G>A
c.107-25121G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443121
chr21:45443124 G
G
 C
C
 16 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(13): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
 16 HG01258.hp2
HG01346.hp2
HG02280.hp1
others(13): Show 
HG01258.hp2
HG01346.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-25118G>C
c.107-25118G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443124
chr21:45443128 G
G
 A
A
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-25114G>A
c.107-25114G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443128
chr21:45443135 C
C
 CGGCGGTG
others(29): Show 
CGGCGGTGCTGGTGTGGGCGGCGGTCCTGGTGTGGGT
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-25083_107-2508
others(40): Show 
c.107-25083_107-25082insCCTGGTGTGGGTGGCGGTGCTGGTGT
GGGCGGCGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45443135
chr21:45443138 C
C
 T
T
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-25104C>T
c.107-25104C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443138
chr21:45443139 G
G
 C
C
 6 a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
others(3): Show 
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0063t0001g0144
a0004c0091t0001g0056
 6 HG02451.hp1
HG02486.hp1
HG02615.hp2
others(3): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-25103G>C
c.107-25103G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443139
chr21:45443142 G
G
 C
C
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-25100G>C
c.107-25100G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443142
chr21:45443164 G
G
 A
A
 1 a0001c0002t0002g0235
a0001c0002t0002g0235
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.107-25078G>A
c.107-25078G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443164
chr21:45443259 T
T
 C
C
 1 a0003c0009t0001g0054
a0003c0009t0001g0054
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.107-24983T>C
c.107-24983T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443259
chr21:45443470 C
C
 T
T
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-24772C>T
c.107-24772C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443470
chr21:45443507 T
T
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-24735T>G
c.107-24735T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443507
chr21:45443514 C
C
 T
T
 1 a0030c0056t0001g0044
a0030c0056t0001g0044
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.107-24728C>T
c.107-24728C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443514
chr21:45443577 A
A
 G
G
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-24665A>G
c.107-24665A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443577
chr21:45443672 C
C
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-24570C>T
c.107-24570C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443672
chr21:45443841 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.107-24401G>A
c.107-24401G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443841
chr21:45443864 A
A
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-24378A>T
c.107-24378A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443864
chr21:45443887 C
C
 G
G
 5 a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
others(2): Show 
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0009c0016t0001g0209
a0029c0071t0002g0134
 5 HG00099.hp1
HG00642.hp2
HG01123.hp1
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01123.hp1
HG01192.hp2
HG01978.hp2
 intron_variant MODIFIER c.107-24355C>G
c.107-24355C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443887
chr21:45443903 G
G
 A
A
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-24339G>A
c.107-24339G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45443903
chr21:45444040 C
C
 T
T
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.107-24202C>T
c.107-24202C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444040
chr21:45444058 C
C
 T
T
 3 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
 3 HG01891.hp1
HG02723.hp1
NA20129.hp1
HG01891.hp1
HG02723.hp1
NA20129.hp1
 intron_variant MODIFIER c.107-24184C>T
c.107-24184C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444058
chr21:45444059 G
G
 A
A
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-24183G>A
c.107-24183G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444059
chr21:45444085 C
C
 T
T
 1 a0003c0015t0001g0168
a0003c0015t0001g0168
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.107-24157C>T
c.107-24157C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444085
chr21:45444087 G
G
 T
T
 1 a0007c0076t0002g0281
a0007c0076t0002g0281
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.107-24155G>T
c.107-24155G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444087
chr21:45444089 C
C
 T
T
 1 a0007c0076t0002g0281
a0007c0076t0002g0281
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.107-24153C>T
c.107-24153C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444089
chr21:45444095 C
C
 T
T
 1 a0007c0076t0002g0281
a0007c0076t0002g0281
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.107-24147C>T
c.107-24147C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444095
chr21:45444096 C
C
 CAAACAAC
others(73): Show 
CAAACAACACAACGGAGGAGGAGGAAAAGAGAGAGGATCTCTCTCAACAA
CAACAACGGAGGAGGAGGAAAAGAGAGAGAT
 1 a0007c0076t0002g0281
a0007c0076t0002g0281
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.107-24146_107-2414
others(84): Show 
c.107-24146_107-24145insAAACAACACAACGGAGGAGGAGGAAA
AGAGAGAGGATCTCTCTCAACAACAACAACGGAGGAGGAGGAAAAGAGAG
AGAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444096
chr21:45444108 C
C
 T
T
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.107-24134C>T
c.107-24134C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444108
chr21:45444118 G
G
 A
A
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-24124G>A
c.107-24124G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444118
chr21:45444276 C
C
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-23966C>T
c.107-23966C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444276
chr21:45444298 G
G
 A
A
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-23944G>A
c.107-23944G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444298
chr21:45444303 G
G
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-23939G>T
c.107-23939G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444303
chr21:45444322 GGCGTGCA
others(15): Show 
GGCGTGCAGGGGTGTAGTGAGGT
 G
G
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-23896_107-2387
others(26): Show 
c.107-23896_107-23875delCGTGCAGGGGTGTAGTGAGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45444322
chr21:45444402 C
C
 T
T
 12 a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
others(9): Show 
a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0003g0205
 12 HG00280.hp1
HG01192.hp1
HG01257.hp1
others(9): Show 
HG00280.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02273.hp1
NA20300.hp1
 intron_variant MODIFIER c.107-23840C>T
c.107-23840C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444402
chr21:45444412 A
A
 G
G
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-23830A>G
c.107-23830A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444412
chr21:45444448 A
A
 G
G
 156 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(153): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 156 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(153): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-23794A>G
c.107-23794A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444448
chr21:45444459 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-23783C>T
c.107-23783C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444459
chr21:45444585 G
G
 A
A
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.107-23657G>A
c.107-23657G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444585
chr21:45444604 G
G
 A
A
 3 a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
 3 HG02965.hp1
HG03041.hp1
NA19043.hp1
HG02965.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-23638G>A
c.107-23638G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444604
chr21:45444629 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-23613G>A
c.107-23613G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444629
chr21:45444638 G
G
 C
C
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-23604G>C
c.107-23604G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444638
chr21:45444675 A
A
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-23567A>T
c.107-23567A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444675
chr21:45444754 G
G
 A
A
 5 a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0016g0051
others(2): Show 
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0016g0051
a0001c0063t0001g0144
a0004c0091t0001g0056
 5 HG02451.hp1
HG02486.hp1
HG02615.hp2
others(2): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-23488G>A
c.107-23488G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444754
chr21:45444807 C
C
 G
G
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-23435C>G
c.107-23435C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444807
chr21:45444822 T
T
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-23420T>G
c.107-23420T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444822
chr21:45444973 T
T
 C
C
 166 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(163): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 166 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(163): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-23269T>C
c.107-23269T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45444973
chr21:45445002 G
G
 A
A
 1 a0035c0078t0001g0115
a0035c0078t0001g0115
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.107-23240G>A
c.107-23240G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445002
chr21:45445056 A
A
 G
G
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-23186A>G
c.107-23186A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445056
chr21:45445123 T
T
 G
G
 4 a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
others(1): Show 
a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
 4 HG00438.hp1
HG00597.hp2
HG00609.hp2
others(1): Show 
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG02129.hp2
 intron_variant MODIFIER c.107-23119T>G
c.107-23119T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445123
chr21:45445146 C
C
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-23096C>T
c.107-23096C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445146
chr21:45445151 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-23091A>G
c.107-23091A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445151
chr21:45445246 C
C
 G
G
 166 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(163): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 166 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(163): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-22996C>G
c.107-22996C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445246
chr21:45445384 A
A
 G
G
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-22858A>G
c.107-22858A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445384
chr21:45445445 G
G
 A
A
 50 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0002g0235
others(47): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0034t0001g0141
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 50 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(47): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-22797G>A
c.107-22797G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445445
chr21:45445497 T
T
 G
G
 1 a0001c0003t0001g0221
a0001c0003t0001g0221
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.107-22745T>G
c.107-22745T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445497
chr21:45445527 G
G
 A
A
 4 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(1): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 4 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(1): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.107-22715G>A
c.107-22715G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445527
chr21:45445562 C
C
 T
T
 1 a0002c0012t0004g0199
a0002c0012t0004g0199
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.107-22680C>T
c.107-22680C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445562
chr21:45445574 C
C
 A
A
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.107-22668C>A
c.107-22668C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445574
chr21:45445623 C
C
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-22619C>T
c.107-22619C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445623
chr21:45445725 C
C
 G
G
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-22517C>G
c.107-22517C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445725
chr21:45445836 C
C
 A
A
 11 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(8): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0061t0001g0257
a0001c0081t0003g0154
 11 HG00621.hp1
NA18949.hp2
NA18952.hp2
others(8): Show 
HG00621.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
 intron_variant MODIFIER c.107-22406C>A
c.107-22406C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445836
chr21:45445975 G
G
 T
T
 1 a0001c0005t0003g0211
a0001c0005t0003g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.107-22267G>T
c.107-22267G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45445975
chr21:45446019 T
T
 C
C
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-22223T>C
c.107-22223T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446019
chr21:45446088 A
A
 T
T
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.107-22154A>T
c.107-22154A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446088
chr21:45446143 C
C
 T
T
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.107-22099C>T
c.107-22099C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446143
chr21:45446144 G
G
 A
A
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.107-22098G>A
c.107-22098G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446144
chr21:45446263 C
C
 T
T
 19 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(16): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 19 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(16): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-21979C>T
c.107-21979C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446263
chr21:45446298 C
C
 T
T
 1 a0001c0003t0001g0249
a0001c0003t0001g0249
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.107-21944C>T
c.107-21944C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446298
chr21:45446440 A
A
 T
T
 1 a0001c0006t0003g0180
a0001c0006t0003g0180
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.107-21802A>T
c.107-21802A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446440
chr21:45446733 AT
AT
 A
A
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-21507delT
c.107-21507delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45446733
chr21:45446788 T
T
 TA
TA
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-21446dupA
c.107-21446dupA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45446788
chr21:45446847 A
A
 T
T
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.107-21395A>T
c.107-21395A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45446847
chr21:45447069 G
G
 A
A
 1 a0001c0004t0001g0274
a0001c0004t0001g0274
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.107-21173G>A
c.107-21173G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447069
chr21:45447111 T
T
 C
C
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-21131T>C
c.107-21131T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447111
chr21:45447161 G
G
 A
A
 1 a0001c0005t0003g0211
a0001c0005t0003g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.107-21081G>A
c.107-21081G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447161
chr21:45447195 T
T
 TTA
TTA
 8 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0001g0024
others(5): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0001g0024
a0001c0002t0012g0109
a0002c0012t0004g0058
a0002c0103t0001g0136
a0005c0060t0001g0063
a0030c0056t0001g0044
 8 HG01167.hp1
HG02145.hp2
HG02809.hp2
others(5): Show 
HG01167.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp2
HG03710.hp1
 intron_variant MODIFIER c.107-21033_107-2103
others(6): Show 
c.107-21033_107-21032dupAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45447195
chr21:45447213 T
T
 A
A
 11 a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
others(8): Show 
a0001c0001t0001g0093
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0061t0001g0257
a0001c0081t0003g0154
 11 HG00621.hp1
NA18949.hp2
NA18952.hp2
others(8): Show 
HG00621.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA19007.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
 intron_variant MODIFIER c.107-21029T>A
c.107-21029T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447213
chr21:45447255 A
A
 G
G
 1 a0001c0001t0001g0253
a0001c0001t0001g0253
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.107-20987A>G
c.107-20987A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447255
chr21:45447333 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-20909A>G
c.107-20909A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447333
chr21:45447350 T
T
 G
G
 1 a0001c0004t0001g0026
a0001c0004t0001g0026
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.107-20892T>G
c.107-20892T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447350
chr21:45447365 G
G
 A
A
 1 a0001c0002t0002g0104
a0001c0002t0002g0104
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.107-20877G>A
c.107-20877G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447365
chr21:45447432 A
A
 G
G
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-20810A>G
c.107-20810A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447432
chr21:45447547 A
A
 G
G
 2 a0003c0047t0001g0069
a0020c0094t0011g0075
a0003c0047t0001g0069
a0020c0094t0011g0075
 2 HG02717.hp1
HG04228.hp1
HG02717.hp1
HG04228.hp1
 intron_variant MODIFIER c.107-20695A>G
c.107-20695A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447547
chr21:45447673 A
A
 G
G
 69 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0002g0235
others(66): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 69 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(66): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-20569A>G
c.107-20569A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447673
chr21:45447688 C
C
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-20554C>G
c.107-20554C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447688
chr21:45447868 C
C
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-20374C>T
c.107-20374C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447868
chr21:45447884 T
T
 G
G
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-20358T>G
c.107-20358T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447884
chr21:45447886 C
C
 T
T
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-20356C>T
c.107-20356C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447886
chr21:45447918 G
G
 A
A
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-20324G>A
c.107-20324G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447918
chr21:45447993 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-20249A>G
c.107-20249A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45447993
chr21:45448114 C
C
 T
T
 7 a0001c0001t0001g0121
a0001c0001t0001g0241
a0001c0002t0002g0047
others(4): Show 
a0001c0001t0001g0121
a0001c0001t0001g0241
a0001c0002t0002g0047
a0001c0017t0003g0284
a0001c0030t0002g0285
a0001c0030t0002g0286
a0006c0028t0003g0059
 7 HG01257.hp2
HG01258.hp1
HG01261.hp1
others(4): Show 
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG02602.hp1
HG02615.hp1
HG02647.hp2
HG02735.hp2
 intron_variant MODIFIER c.107-20128C>T
c.107-20128C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448114
chr21:45448200 C
C
 T
T
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.107-20042C>T
c.107-20042C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448200
chr21:45448266 TTCTC
TTCTC
 T
T
 10 a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
others(7): Show 
a0001c0017t0002g0179
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 10 HG00639.hp2
HG00733.hp1
HG01167.hp1
others(7): Show 
HG00639.hp2
HG00733.hp1
HG01167.hp1
HG01243.hp1
HG02895.hp2
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-19973_107-1997
others(8): Show 
c.107-19973_107-19970delTCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45448266
chr21:45448282 C
C
 T
T
 1 a0001c0001t0001g0241
a0001c0001t0001g0241
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.107-19960C>T
c.107-19960C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448282
chr21:45448288 CCA
CCA
 C
C
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-19946_107-1994
others(6): Show 
c.107-19946_107-19945delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45448288
chr21:45448326 G
G
 A
A
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-19916G>A
c.107-19916G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448326
chr21:45448344 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-19898C>G
c.107-19898C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448344
chr21:45448364 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-19878G>A
c.107-19878G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448364
chr21:45448519 G
G
 A
A
 69 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(66): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 69 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(66): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-19723G>A
c.107-19723G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448519
chr21:45448526 C
C
 T
T
 1 a0001c0001t0001g0273
a0001c0001t0001g0273
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.107-19716C>T
c.107-19716C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448526
chr21:45448527 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.107-19715G>A
c.107-19715G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448527
chr21:45448529 G
G
 A
A
 170 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(167): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0235
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 170 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(167): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-19713G>A
c.107-19713G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448529
chr21:45448532 C
C
 T
T
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-19710C>T
c.107-19710C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448532
chr21:45448591 A
A
 G
G
 71 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(68): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 71 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(68): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-19651A>G
c.107-19651A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448591
chr21:45448738 C
C
 T
T
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-19504C>T
c.107-19504C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448738
chr21:45448796 G
G
 A
A
 69 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(66): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 69 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(66): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-19446G>A
c.107-19446G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448796
chr21:45448807 C
C
 T
T
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.107-19435C>T
c.107-19435C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448807
chr21:45448879 G
G
 A
A
 69 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(66): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 69 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(66): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-19363G>A
c.107-19363G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448879
chr21:45448915 A
A
 G
G
 83 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(80): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 83 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(80): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-19327A>G
c.107-19327A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448915
chr21:45448936 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-19306C>G
c.107-19306C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448936
chr21:45448987 G
G
 A
A
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.107-19255G>A
c.107-19255G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45448987
chr21:45449223 C
C
 T
T
 2 a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0005t0007g0262
a0001c0005t0007g0263
 2 HG02165.hp2
NA18954.hp2
HG02165.hp2
NA18954.hp2
 intron_variant MODIFIER c.107-19019C>T
c.107-19019C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449223
chr21:45449261 G
G
 A
A
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.107-18981G>A
c.107-18981G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449261
chr21:45449288 G
G
 A
A
 1 a0004c0091t0001g0056
a0004c0091t0001g0056
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.107-18954G>A
c.107-18954G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449288
chr21:45449336 A
A
 G
G
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.107-18906A>G
c.107-18906A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449336
chr21:45449350 A
A
 G
G
 79 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(76): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 79 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(76): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-18892A>G
c.107-18892A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449350
chr21:45449400 C
C
 G
G
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-18842C>G
c.107-18842C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449400
chr21:45449511 G
G
 A
A
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.107-18731G>A
c.107-18731G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449511
chr21:45449518 C
C
 T
T
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-18724C>T
c.107-18724C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449518
chr21:45449519 G
G
 A
A
 1 a0001c0063t0001g0144
a0001c0063t0001g0144
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.107-18723G>A
c.107-18723G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449519
chr21:45449549 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-18693C>T
c.107-18693C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449549
chr21:45449564 G
G
 A
A
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.107-18678G>A
c.107-18678G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449564
chr21:45449741 C
C
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-18501C>T
c.107-18501C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449741
chr21:45449806 G
G
 A
A
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.107-18436G>A
c.107-18436G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449806
chr21:45449862 CAG
CAG
 C
C
 11 a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
others(8): Show 
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0209
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 11 HG00099.hp1
HG00597.hp1
HG00642.hp2
others(8): Show 
HG00099.hp1
HG00597.hp1
HG00642.hp2
HG01123.hp1
HG01192.hp2
HG01978.hp2
HG02132.hp1
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
 intron_variant MODIFIER c.107-18379_107-1837
others(6): Show 
c.107-18379_107-18378delAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449862
chr21:45449863 AG
AG
 A
A
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-18374delG
c.107-18374delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45449863
chr21:45449895 G
G
 T
T
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-18347G>T
c.107-18347G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45449895
chr21:45450033 C
C
 T
T
 1 a0001c0007t0002g0194
a0001c0007t0002g0194
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.107-18209C>T
c.107-18209C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450033
chr21:45450171 C
C
 T
T
 66 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(63): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 66 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(63): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-18071C>T
c.107-18071C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450171
chr21:45450192 G
G
 A
A
 1 a0001c0002t0002g0269
a0001c0002t0002g0269
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.107-18050G>A
c.107-18050G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450192
chr21:45450243 G
G
 A
A
 1 a0001c0008t0002g0272
a0001c0008t0002g0272
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.107-17999G>A
c.107-17999G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450243
chr21:45450292 G
G
 A
A
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-17950G>A
c.107-17950G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450292
chr21:45450351 G
G
 A
A
 1 a0001c0008t0002g0272
a0001c0008t0002g0272
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.107-17891G>A
c.107-17891G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450351
chr21:45450428 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-17814G>A
c.107-17814G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450428
chr21:45450439 T
T
 A
A
 2 a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0009t0001g0247
a0003c0010t0002g0172
 2 HG00544.hp1
NA19088.hp2
HG00544.hp1
NA19088.hp2
 intron_variant MODIFIER c.107-17803T>A
c.107-17803T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450439
chr21:45450644 G
G
 A
A
 47 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(44): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-17598G>A
c.107-17598G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450644
chr21:45450669 C
C
 T
T
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-17573C>T
c.107-17573C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450669
chr21:45450762 G
G
 C
C
 1 a0013c0102t0004g0196
a0013c0102t0004g0196
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-17480G>C
c.107-17480G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450762
chr21:45450805 C
C
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-17437C>T
c.107-17437C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450805
chr21:45450879 C
C
 A
A
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-17363C>A
c.107-17363C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450879
chr21:45450944 C
C
 G
G
 1 a0006c0072t0002g0082
a0006c0072t0002g0082
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.107-17298C>G
c.107-17298C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450944
chr21:45450946 C
C
 T
T
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.107-17296C>T
c.107-17296C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450946
chr21:45450947 G
G
 A
A
 3 a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 3 HG01891.hp2
HG02145.hp1
HG03225.hp1
HG01891.hp2
HG02145.hp1
HG03225.hp1
 intron_variant MODIFIER c.107-17295G>A
c.107-17295G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450947
chr21:45450990 G
G
 A
A
 1 a0001c0005t0002g0224
a0001c0005t0002g0224
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.107-17252G>A
c.107-17252G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45450990
chr21:45451000 C
C
 T
T
 4 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
others(1): Show 
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0287
 4 HG00735.hp2
HG01106.hp1
HG01258.hp2
others(1): Show 
HG00735.hp2
HG01106.hp1
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-17242C>T
c.107-17242C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451000
chr21:45451038 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-17204G>A
c.107-17204G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451038
chr21:45451092 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-17150G>A
c.107-17150G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451092
chr21:45451107 C
C
 A
A
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.107-17135C>A
c.107-17135C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451107
chr21:45451206 G
G
 A
A
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-17036G>A
c.107-17036G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451206
chr21:45451454 C
C
 T
T
 1 a0001c0004t0016g0051
a0001c0004t0016g0051
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.107-16788C>T
c.107-16788C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451454
chr21:45451519 C
C
 T
T
 3 a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
 3 HG02080.hp2
NA19005.hp2
NA19057.hp2
HG02080.hp2
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.107-16723C>T
c.107-16723C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451519
chr21:45451558 C
C
 T
T
 45 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(42): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-16684C>T
c.107-16684C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451558
chr21:45451598 G
G
 A
A
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-16644G>A
c.107-16644G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451598
chr21:45451679 G
G
 A
A
 69 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(66): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 69 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(66): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-16563G>A
c.107-16563G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451679
chr21:45451789 C
C
 T
T
 64 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(61): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 64 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(61): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-16453C>T
c.107-16453C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451789
chr21:45451837 G
G
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-16405G>A
c.107-16405G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451837
chr21:45451850 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-16392C>T
c.107-16392C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451850
chr21:45451986 G
G
 C
C
 1 a0022c0068t0010g0004
a0022c0068t0010g0004
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.107-16256G>C
c.107-16256G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45451986
chr21:45452159 G
G
 A
A
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-16083G>A
c.107-16083G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452159
chr21:45452161 G
G
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-16081G>A
c.107-16081G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452161
chr21:45452164 A
A
 G
G
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.107-16078A>G
c.107-16078A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452164
chr21:45452225 A
A
 G
G
 2 a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0009t0001g0167
a0003c0010t0002g0068
 2 HG02683.hp1
NA20905.hp2
HG02683.hp1
NA20905.hp2
 intron_variant MODIFIER c.107-16017A>G
c.107-16017A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452225
chr21:45452253 A
A
 G
G
 69 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(66): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 69 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(66): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-15989A>G
c.107-15989A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452253
chr21:45452270 T
T
 C
C
 1 a0001c0002t0002g0111
a0001c0002t0002g0111
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.107-15972T>C
c.107-15972T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452270
chr21:45452316 G
G
 C
C
 1 a0001c0019t0003g0065
a0001c0019t0003g0065
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.107-15926G>C
c.107-15926G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452316
chr21:45452356 CAT
CAT
 C
C
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-15885_107-1588
others(6): Show 
c.107-15885_107-15884delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452356
chr21:45452357 A
A
 G
G
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-15885A>G
c.107-15885A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452357
chr21:45452429 T
T
 C
C
 1 a0001c0003t0001g0289
a0001c0003t0001g0289
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.107-15813T>C
c.107-15813T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452429
chr21:45452436 ATG
ATG
 A
A
 15 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(12): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 15 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(12): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-15803_107-1580
others(6): Show 
c.107-15803_107-15802delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452436
chr21:45452443 T
T
 C
C
 1 a0008c0101t0005g0027
a0008c0101t0005g0027
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.107-15799T>C
c.107-15799T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452443
chr21:45452483 TTCTG
TTCTG
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-15757_107-1575
others(8): Show 
c.107-15757_107-15754delCTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452483
chr21:45452487 G
G
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-15755G>T
c.107-15755G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452487
chr21:45452490 T
T
 G
G
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.107-15752T>G
c.107-15752T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452490
chr21:45452492 C
C
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-15750C>A
c.107-15750C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452492
chr21:45452511 CGT
CGT
 C
C
 67 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(64): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 67 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(64): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-15727_107-1572
others(6): Show 
c.107-15727_107-15726delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452511
chr21:45452691 ATG
ATG
 A
A
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-15548_107-1554
others(6): Show 
c.107-15548_107-15547delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452691
chr21:45452713 A
A
 G
G
 79 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(76): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 79 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(76): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-15529A>G
c.107-15529A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452713
chr21:45452720 CAT
CAT
 C
C
 85 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(82): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0008t0002g0240
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
a0028c0097t0001g0036
a0031c0092t0011g0190
 85 HG00423.hp1
HG00544.hp1
HG00544.hp2
others(82): Show 
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00733.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-15521_107-1552
others(6): Show 
c.107-15521_107-15520delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452720
chr21:45452744 A
A
 G
G
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.107-15498A>G
c.107-15498A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452744
chr21:45452780 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.107-15462G>A
c.107-15462G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452780
chr21:45452788 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-15454A>G
c.107-15454A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452788
chr21:45452797 CAT
CAT
 C
C
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-15442_107-1544
others(6): Show 
c.107-15442_107-15441delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452797
chr21:45452842 CATGT
CATGT
 C
C
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-15391_107-1538
others(8): Show 
c.107-15391_107-15388delATGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452842
chr21:45452849 GTA
GTA
 G
G
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-15391_107-1539
others(6): Show 
c.107-15391_107-15390delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452849
chr21:45452851 ATG
ATG
 A
A
 105 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(102): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0016c0042t0001g0118
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 105 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(102): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-15386_107-1538
others(6): Show 
c.107-15386_107-15385delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45452851
chr21:45452872 A
A
 G
G
 1 a0001c0001t0001g0241
a0001c0001t0001g0241
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.107-15370A>G
c.107-15370A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452872
chr21:45452894 T
T
 C
C
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.107-15348T>C
c.107-15348T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452894
chr21:45452926 C
C
 G
G
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-15316C>G
c.107-15316C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452926
chr21:45452970 A
A
 G
G
 68 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(65): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0026c0044t0001g0037
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 68 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(65): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-15272A>G
c.107-15272A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452970
chr21:45452981 T
T
 G
G
 2 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0001g0010
a0002c0020t0001g0011
 2 HG01074.hp2
HG01081.hp1
HG01074.hp2
HG01081.hp1
 intron_variant MODIFIER c.107-15261T>G
c.107-15261T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45452981
chr21:45453003 A
A
 G
G
 1 a0002c0083t0001g0237
a0002c0083t0001g0237
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.107-15239A>G
c.107-15239A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453003
chr21:45453009 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-15233A>G
c.107-15233A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453009
chr21:45453152 CAT
CAT
 C
C
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.107-15089_107-1508
others(6): Show 
c.107-15089_107-15088delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453152
chr21:45453154 T
T
 C
C
 58 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(55): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 58 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(55): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02922.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-15088T>C
c.107-15088T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453154
chr21:45453218 A
A
 G
G
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-15024A>G
c.107-15024A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453218
chr21:45453321 CAT
CAT
 C
C
 5 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
others(2): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0006c0026t0003g0219
a0012c0088t0002g0006
 5 HG01074.hp2
HG01081.hp1
NA18522.hp1
others(2): Show 
HG01074.hp2
HG01081.hp1
NA18522.hp1
NA18906.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-14916_107-1491
others(6): Show 
c.107-14916_107-14915delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45453321
chr21:45453351 A
A
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-14891A>C
c.107-14891A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453351
chr21:45453382 CAT
CAT
 C
C
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-14855_107-1485
others(6): Show 
c.107-14855_107-14854delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45453382
chr21:45453393 G
G
 A
A
 2 a0001c0003t0001g0182
a0001c0003t0001g0261
a0001c0003t0001g0182
a0001c0003t0001g0261
 2 HG01943.hp1
HG01993.hp2
HG01943.hp1
HG01993.hp2
 intron_variant MODIFIER c.107-14849G>A
c.107-14849G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453393
chr21:45453434 C
C
 T
T
 1 a0005c0060t0001g0063
a0005c0060t0001g0063
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.107-14808C>T
c.107-14808C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453434
chr21:45453514 G
G
 T
T
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.107-14728G>T
c.107-14728G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453514
chr21:45453554 T
T
 C
C
 1 a0001c0013t0002g0122
a0001c0013t0002g0122
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.107-14688T>C
c.107-14688T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453554
chr21:45453610 A
A
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-14632A>T
c.107-14632A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453610
chr21:45453630 A
A
 C
C
 3 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
 3 HG02258.hp2
HG02572.hp2
HG02717.hp2
HG02258.hp2
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.107-14612A>C
c.107-14612A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453630
chr21:45453636 C
C
 G
G
 3 a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
 3 HG02965.hp1
HG03041.hp1
NA19043.hp1
HG02965.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-14606C>G
c.107-14606C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453636
chr21:45453649 G
G
 A
A
 10 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
others(7): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0062
a0001c0037t0001g0157
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 10 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(7): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
HG02970.hp2
HG03195.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-14593G>A
c.107-14593G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453649
chr21:45453684 G
G
 T
T
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.107-14558G>T
c.107-14558G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453684
chr21:45453777 A
A
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-14465A>C
c.107-14465A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453777
chr21:45453783 G
G
 T
T
 1 a0001c0081t0003g0154
a0001c0081t0003g0154
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.107-14459G>T
c.107-14459G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453783
chr21:45453806 C
C
 T
T
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-14436C>T
c.107-14436C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453806
chr21:45453861 A
A
 C
C
 1 a0001c0008t0002g0240
a0001c0008t0002g0240
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.107-14381A>C
c.107-14381A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453861
chr21:45453975 C
C
 T
T
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.107-14267C>T
c.107-14267C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453975
chr21:45453984 A
A
 G
G
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.107-14258A>G
c.107-14258A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453984
chr21:45453985 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-14257G>A
c.107-14257G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45453985
chr21:45454022 T
T
 G
G
 1 a0001c0019t0003g0065
a0001c0019t0003g0065
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.107-14220T>G
c.107-14220T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454022
chr21:45454024 C
C
 T
T
 3 a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 3 HG02630.hp2
HG03130.hp1
HG03579.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-14218C>T
c.107-14218C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454024
chr21:45454025 G
G
 A
A
 1 a0005c0058t0001g0165
a0005c0058t0001g0165
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.107-14217G>A
c.107-14217G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454025
chr21:45454103 C
C
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-14139C>T
c.107-14139C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454103
chr21:45454263 C
C
 T
T
 1 a0001c0017t0002g0179
a0001c0017t0002g0179
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.107-13979C>T
c.107-13979C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454263
chr21:45454347 A
A
 G
G
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-13895A>G
c.107-13895A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454347
chr21:45454496 C
C
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-13746C>T
c.107-13746C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454496
chr21:45454505 A
A
 G
G
 2 a0022c0068t0010g0004
a0024c0066t0010g0066
a0022c0068t0010g0004
a0024c0066t0010g0066
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.107-13737A>G
c.107-13737A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454505
chr21:45454604 C
C
 T
T
 3 a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
 3 HG02965.hp1
HG03041.hp1
NA19043.hp1
HG02965.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-13638C>T
c.107-13638C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454604
chr21:45454660 C
C
 T
T
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.107-13582C>T
c.107-13582C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454660
chr21:45454815 T
T
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-13427T>C
c.107-13427T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454815
chr21:45454831 T
T
 G
G
 154 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(151): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 154 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(151): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-13411T>G
c.107-13411T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454831
chr21:45454832 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-13410A>G
c.107-13410A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45454832
chr21:45455233 C
C
 G
G
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.107-13009C>G
c.107-13009C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455233
chr21:45455280 C
C
 T
T
 4 a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
others(1): Show 
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0029c0071t0002g0134
 4 HG00099.hp1
HG00642.hp2
HG01192.hp2
others(1): Show 
HG00099.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
 intron_variant MODIFIER c.107-12962C>T
c.107-12962C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455280
chr21:45455399 G
G
 T
T
 1 a0002c0021t0002g0001
a0002c0021t0002g0001
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.107-12843G>T
c.107-12843G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455399
chr21:45455438 C
C
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-12804C>A
c.107-12804C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455438
chr21:45455453 G
G
 T
T
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.107-12789G>T
c.107-12789G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455453
chr21:45455509 C
C
 A
A
 4 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
others(1): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0012c0088t0002g0006
 4 HG01074.hp2
HG01081.hp1
NA18522.hp1
others(1): Show 
HG01074.hp2
HG01081.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.107-12733C>A
c.107-12733C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455509
chr21:45455586 C
C
 T
T
 3 a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
 3 HG02965.hp1
HG03041.hp1
NA19043.hp1
HG02965.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-12656C>T
c.107-12656C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455586
chr21:45455650 T
T
 C
C
 289 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(286): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-12592T>C
c.107-12592T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455650
chr21:45455672 C
C
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-12570C>G
c.107-12570C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455672
chr21:45455676 A
A
 T
T
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-12566A>T
c.107-12566A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455676
chr21:45455769 C
C
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-12473C>G
c.107-12473C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455769
chr21:45455770 T
T
 A
A
 1 a0001c0003t0001g0182
a0001c0003t0001g0182
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.107-12472T>A
c.107-12472T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455770
chr21:45455860 C
C
 T
T
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.107-12382C>T
c.107-12382C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455860
chr21:45455861 G
G
 A
A
 4 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(1): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0008c0101t0005g0027
 4 HG03209.hp2
HG03453.hp1
HG03471.hp2
others(1): Show 
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-12381G>A
c.107-12381G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455861
chr21:45455878 C
C
 T
T
 4 a0001c0001t0001g0103
a0001c0001t0001g0234
a0001c0002t0002g0133
others(1): Show 
a0001c0001t0001g0103
a0001c0001t0001g0234
a0001c0002t0002g0133
a0001c0002t0006g0233
 4 HG02040.hp2
HG02165.hp1
NA18995.hp2
others(1): Show 
HG02040.hp2
HG02165.hp1
NA18995.hp2
NA19012.hp2
 intron_variant MODIFIER c.107-12364C>T
c.107-12364C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455878
chr21:45455960 G
G
 A
A
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.107-12282G>A
c.107-12282G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455960
chr21:45455993 G
G
 A
A
 1 a0001c0003t0001g0289
a0001c0003t0001g0289
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.107-12249G>A
c.107-12249G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45455993
chr21:45456047 G
G
 A
A
 1 a0001c0002t0001g0095
a0001c0002t0001g0095
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.107-12195G>A
c.107-12195G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456047
chr21:45456067 C
C
 T
T
 1 a0024c0066t0010g0066
a0024c0066t0010g0066
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.107-12175C>T
c.107-12175C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456067
chr21:45456090 C
C
 T
T
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.107-12152C>T
c.107-12152C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456090
chr21:45456118 C
C
 G
G
 2 a0015c0029t0003g0226
a0015c0029t0003g0227
a0015c0029t0003g0226
a0015c0029t0003g0227
 2 HG01515.hp1
HG01517.hp1
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.107-12124C>G
c.107-12124C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456118
chr21:45456169 A
A
 G
G
 125 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(122): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 125 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(122): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-12073A>G
c.107-12073A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456169
chr21:45456242 A
A
 C
C
 3 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
 3 HG01891.hp1
HG02723.hp1
NA20129.hp1
HG01891.hp1
HG02723.hp1
NA20129.hp1
 intron_variant MODIFIER c.107-12000A>C
c.107-12000A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456242
chr21:45456259 C
C
 T
T
 59 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(56): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0046t0001g0002
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0101t0005g0027
a0009c0016t0001g0084
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 59 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(56): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-11983C>T
c.107-11983C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456259
chr21:45456298 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.107-11944C>T
c.107-11944C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456298
chr21:45456299 G
G
 A
A
 1 a0001c0005t0002g0158
a0001c0005t0002g0158
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.107-11943G>A
c.107-11943G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456299
chr21:45456312 C
C
 T
T
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-11930C>T
c.107-11930C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456312
chr21:45456392 G
G
 A
A
 57 a0001c0002t0001g0095
a0001c0003t0001g0005
a0001c0003t0001g0043
others(54): Show 
a0001c0002t0001g0095
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0098t0001g0007
a0004c0100t0001g0039
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0101t0005g0027
a0009c0016t0001g0084
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 57 HG00099.hp2
HG00140.hp2
HG00280.hp2
others(54): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19064.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-11850G>A
c.107-11850G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456392
chr21:45456407 G
G
 A
A
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-11835G>A
c.107-11835G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456407
chr21:45456523 C
C
 T
T
 5 a0001c0001t0001g0135
a0002c0012t0004g0040
a0002c0012t0004g0049
others(2): Show 
a0001c0001t0001g0135
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 5 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(2): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
NA18944.hp2
 intron_variant MODIFIER c.107-11719C>T
c.107-11719C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456523
chr21:45456562 C
C
 T
T
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-11680C>T
c.107-11680C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456562
chr21:45456563 G
G
 A
A
 1 a0001c0024t0001g0256
a0001c0024t0001g0256
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.107-11679G>A
c.107-11679G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456563
chr21:45456666 C
C
 G
G
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.107-11576C>G
c.107-11576C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456666
chr21:45456666 C
C
 T
T
 136 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(133): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 136 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(133): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-11576C>T
c.107-11576C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456666
chr21:45456705 T
T
 C
C
 8 a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
others(5): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 8 HG01258.hp2
HG01346.hp2
HG02258.hp2
others(5): Show 
HG01258.hp2
HG01346.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-11537T>C
c.107-11537T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456705
chr21:45456740 G
G
 A
A
 1 a0001c0013t0014g0210
a0001c0013t0014g0210
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.107-11502G>A
c.107-11502G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456740
chr21:45456755 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-11487T>C
c.107-11487T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456755
chr21:45456802 C
C
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-11440C>T
c.107-11440C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456802
chr21:45456803 G
G
 C
C
 16 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(13): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
a0027c0070t0001g0012
 16 HG00544.hp1
HG00733.hp2
HG02257.hp1
others(13): Show 
HG00544.hp1
HG00733.hp2
HG02257.hp1
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-11439G>C
c.107-11439G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456803
chr21:45456818 G
G
 A
A
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-11424G>A
c.107-11424G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456818
chr21:45456820 C
C
 T
T
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-11422C>T
c.107-11422C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456820
chr21:45456871 G
G
 A
A
 1 a0001c0003t0001g0101
a0001c0003t0001g0101
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.107-11371G>A
c.107-11371G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45456871
chr21:45457012 G
G
 A
A
 1 a0003c0009t0001g0054
a0003c0009t0001g0054
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.107-11230G>A
c.107-11230G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457012
chr21:45457059 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-11183C>T
c.107-11183C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457059
chr21:45457075 A
A
 G
G
 1 a0003c0010t0002g0172
a0003c0010t0002g0172
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.107-11167A>G
c.107-11167A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457075
chr21:45457148 A
A
 G
G
 1 a0001c0002t0002g0047
a0001c0002t0002g0047
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.107-11094A>G
c.107-11094A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457148
chr21:45457226 C
C
 T
T
 1 a0001c0013t0002g0207
a0001c0013t0002g0207
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.107-11016C>T
c.107-11016C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457226
chr21:45457235 C
C
 T
T
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.107-11007C>T
c.107-11007C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457235
chr21:45457247 G
G
 A
A
 1 a0006c0026t0001g0083
a0006c0026t0001g0083
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.107-10995G>A
c.107-10995G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457247
chr21:45457281 G
G
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-10961G>T
c.107-10961G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457281
chr21:45457312 G
G
 C
C
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.107-10930G>C
c.107-10930G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457312
chr21:45457338 G
G
 A
A
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-10904G>A
c.107-10904G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457338
chr21:45457482 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-10760G>A
c.107-10760G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457482
chr21:45457530 G
G
 A
A
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-10712G>A
c.107-10712G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457530
chr21:45457641 G
G
 C
C
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.107-10601G>C
c.107-10601G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457641
chr21:45457669 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-10573C>T
c.107-10573C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457669
chr21:45457689 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-10553T>C
c.107-10553T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457689
chr21:45457733 G
G
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-10509G>A
c.107-10509G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457733
chr21:45457733 G
G
 T
T
 1 a0033c0077t0003g0098
a0033c0077t0003g0098
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.107-10509G>T
c.107-10509G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457733
chr21:45457893 G
G
 C
C
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.107-10349G>C
c.107-10349G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457893
chr21:45457941 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-10301T>C
c.107-10301T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457941
chr21:45457967 C
C
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-10275C>G
c.107-10275C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45457967
chr21:45458041 G
G
 A
A
 2 a0001c0007t0002g0078
a0032c0052t0002g0077
a0001c0007t0002g0078
a0032c0052t0002g0077
 2 HG00140.hp2
HG04204.hp2
HG00140.hp2
HG04204.hp2
 intron_variant MODIFIER c.107-10201G>A
c.107-10201G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458041
chr21:45458176 G
G
 A
A
 1 a0001c0004t0001g0255
a0001c0004t0001g0255
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.107-10066G>A
c.107-10066G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458176
chr21:45458192 C
C
 T
T
 1 a0001c0002t0002g0231
a0001c0002t0002g0231
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.107-10050C>T
c.107-10050C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458192
chr21:45458236 G
G
 T
T
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.107-10006G>T
c.107-10006G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458236
chr21:45458264 G
G
 A
A
 1 a0003c0046t0001g0002
a0003c0046t0001g0002
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.107-9978G>A
c.107-9978G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458264
chr21:45458266 G
G
 A
A
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-9976G>A
c.107-9976G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458266
chr21:45458278 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9964C>T
c.107-9964C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458278
chr21:45458346 C
C
 G
G
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-9896C>G
c.107-9896C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458346
chr21:45458456 C
C
 T
T
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.107-9786C>T
c.107-9786C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458456
chr21:45458513 C
C
 T
T
 2 a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0055t0003g0152
 2 NA18953.hp2
NA19012.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.107-9729C>T
c.107-9729C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458513
chr21:45458562 A
A
 G
G
 1 a0009c0016t0001g0209
a0009c0016t0001g0209
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.107-9680A>G
c.107-9680A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458562
chr21:45458570 C
C
 T
T
 23 a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
others(20): Show 
a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 23 HG01192.hp1
HG01257.hp1
HG01361.hp1
others(20): Show 
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02273.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA20300.hp1
 intron_variant MODIFIER c.107-9672C>T
c.107-9672C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458570
chr21:45458677 C
C
 T
T
 1 a0004c0023t0002g0163
a0004c0023t0002g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.107-9565C>T
c.107-9565C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458677
chr21:45458687 C
C
 G
G
 8 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(5): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0008c0101t0005g0027
 8 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(5): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02922.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9555C>G
c.107-9555C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458687
chr21:45458722 C
C
 T
T
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9520C>T
c.107-9520C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458722
chr21:45458753 G
G
 A
A
 1 a0001c0003t0001g0289
a0001c0003t0001g0289
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.107-9489G>A
c.107-9489G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458753
chr21:45458800 C
C
 T
T
 63 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(60): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 63 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(60): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-9442C>T
c.107-9442C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458800
chr21:45458807 A
A
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-9435A>G
c.107-9435A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458807
chr21:45458817 GC
GC
 G
G
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9422delC
c.107-9422delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45458817
chr21:45458878 C
C
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-9364C>T
c.107-9364C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458878
chr21:45458879 G
G
 A
A
 7 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(4): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 7 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(4): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.107-9363G>A
c.107-9363G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458879
chr21:45458958 C
C
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9284C>T
c.107-9284C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458958
chr21:45458970 G
G
 A
A
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9272G>A
c.107-9272G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45458970
chr21:45459030 C
C
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-9212C>T
c.107-9212C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459030
chr21:45459031 G
G
 A
A
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-9211G>A
c.107-9211G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459031
chr21:45459036 C
C
 T
T
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-9206C>T
c.107-9206C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459036
chr21:45459048 G
G
 T
T
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.107-9194G>T
c.107-9194G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459048
chr21:45459243 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-8999C>T
c.107-8999C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459243
chr21:45459246 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8996A>G
c.107-8996A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459246
chr21:45459316 C
C
 T
T
 42 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
others(39): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 42 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(39): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-8926C>T
c.107-8926C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459316
chr21:45459331 TC
TC
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8910delC
c.107-8910delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459331
chr21:45459424 A
A
 G
G
 91 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(88): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0236
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0028t0003g0230
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 91 HG00140.hp1
HG00423.hp1
HG00544.hp2
others(88): Show 
HG00140.hp1
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA18999.hp2
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-8818A>G
c.107-8818A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459424
chr21:45459463 G
G
 A
A
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-8779G>A
c.107-8779G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459463
chr21:45459527 C
C
 A
A
 1 a0035c0078t0001g0115
a0035c0078t0001g0115
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.107-8715C>A
c.107-8715C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459527
chr21:45459542 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8700C>T
c.107-8700C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459542
chr21:45459543 G
G
 A
A
 1 a0001c0003t0001g0249
a0001c0003t0001g0249
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.107-8699G>A
c.107-8699G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459543
chr21:45459545 C
C
 T
T
 1 a0001c0002t0006g0233
a0001c0002t0006g0233
 1 NA19012.hp2
NA19012.hp2
 intron_variant MODIFIER c.107-8697C>T
c.107-8697C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459545
chr21:45459583 G
G
 A
A
 8 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(5): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0008c0101t0005g0027
 8 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(5): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02922.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8659G>A
c.107-8659G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459583
chr21:45459592 C
C
 T
T
 1 a0001c0003t0001g0081
a0001c0003t0001g0081
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.107-8650C>T
c.107-8650C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459592
chr21:45459650 G
G
 T
T
 1 a0001c0003t0001g0261
a0001c0003t0001g0261
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.107-8592G>T
c.107-8592G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459650
chr21:45459718 A
A
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8524A>C
c.107-8524A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459718
chr21:45459774 C
C
 G
G
 47 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(44): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0255
a0001c0005t0002g0158
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18966.hp1
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-8468C>G
c.107-8468C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459774
chr21:45459774 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8468C>T
c.107-8468C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459774
chr21:45459779 G
G
 A
A
 2 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0001g0010
a0002c0020t0001g0011
 2 HG01074.hp2
HG01081.hp1
HG01074.hp2
HG01081.hp1
 intron_variant MODIFIER c.107-8463G>A
c.107-8463G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459779
chr21:45459800 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8442C>T
c.107-8442C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459800
chr21:45459856 C
C
 T
T
 2 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0038t0004g0028
a0001c0038t0004g0029
 2 HG02572.hp1
HG02622.hp1
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.107-8386C>T
c.107-8386C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459856
chr21:45459964 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8278C>T
c.107-8278C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459964
chr21:45459980 G
G
 GTAGCA
GTAGCA
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-8262_107-8261i
others(7): Show 
c.107-8262_107-8261insTAGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459980
chr21:45459997 C
C
 G
G
 4 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
others(1): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0012c0088t0002g0006
 4 HG01074.hp2
HG01081.hp1
NA18522.hp1
others(1): Show 
HG01074.hp2
HG01081.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.107-8245C>G
c.107-8245C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45459997
chr21:45460116 C
C
 T
T
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.107-8126C>T
c.107-8126C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460116
chr21:45460116 CAAG
CAAG
 C
C
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-8125_107-8123d
others(5): Show 
c.107-8125_107-8123delAAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460116
chr21:45460206 G
G
 A
A
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.107-8036G>A
c.107-8036G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460206
chr21:45460368 C
C
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-7874C>A
c.107-7874C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460368
chr21:45460529 C
C
 T
T
 14 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(11): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 14 HG01891.hp2
HG02451.hp2
HG02559.hp1
others(11): Show 
HG01891.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7713C>T
c.107-7713C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460529
chr21:45460548 C
C
 T
T
 1 a0001c0003t0001g0261
a0001c0003t0001g0261
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.107-7694C>T
c.107-7694C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460548
chr21:45460624 C
C
 T
T
 4 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
others(1): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0012c0088t0002g0006
 4 HG01074.hp2
HG01081.hp1
NA18522.hp1
others(1): Show 
HG01074.hp2
HG01081.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.107-7618C>T
c.107-7618C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460624
chr21:45460635 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7607T>C
c.107-7607T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460635
chr21:45460662 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7580A>G
c.107-7580A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460662
chr21:45460680 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7562T>C
c.107-7562T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460680
chr21:45460721 C
C
 CTG
CTG
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7520_107-7519d
others(4): Show 
c.107-7520_107-7519dupTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45460721
chr21:45460769 A
A
 AT
AT
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7467dupT
c.107-7467dupT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45460769
chr21:45460799 G
G
 A
A
 2 a0001c0003t0001g0182
a0004c0099t0003g0030
a0001c0003t0001g0182
a0004c0099t0003g0030
 2 HG01943.hp1
HG02922.hp1
HG01943.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-7443G>A
c.107-7443G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460799
chr21:45460873 G
G
 A
A
 1 a0001c0080t0004g0057
a0001c0080t0004g0057
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.107-7369G>A
c.107-7369G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460873
chr21:45460939 T
T
 G
G
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-7303T>G
c.107-7303T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460939
chr21:45460947 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7295A>G
c.107-7295A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460947
chr21:45460985 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7257G>A
c.107-7257G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45460985
chr21:45461052 G
G
 A
A
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.107-7190G>A
c.107-7190G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461052
chr21:45461124 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7118G>A
c.107-7118G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461124
chr21:45461141 A
A
 G
G
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-7101A>G
c.107-7101A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461141
chr21:45461171 T
T
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-7071T>A
c.107-7071T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461171
chr21:45461233 G
G
 A
A
 3 a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0007t0002g0194
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0007t0002g0194
 3 HG02055.hp1
NA18998.hp1
NA19005.hp1
HG02055.hp1
NA18998.hp1
NA19005.hp1
 intron_variant MODIFIER c.107-7009G>A
c.107-7009G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461233
chr21:45461329 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6913C>T
c.107-6913C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461329
chr21:45461364 A
A
 G
G
 4 a0001c0001t0001g0253
a0001c0024t0001g0229
a0001c0024t0001g0256
others(1): Show 
a0001c0001t0001g0253
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0064t0001g0061
 4 HG00558.hp1
HG02083.hp1
HG02135.hp2
others(1): Show 
HG00558.hp1
HG02083.hp1
HG02135.hp2
NA18990.hp1
 intron_variant MODIFIER c.107-6878A>G
c.107-6878A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461364
chr21:45461440 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.107-6802C>T
c.107-6802C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461440
chr21:45461441 G
G
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-6801G>A
c.107-6801G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461441
chr21:45461446 T
T
 TC
TC
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6794dupC
c.107-6794dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45461446
chr21:45461521 C
C
 T
T
 21 a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
others(18): Show 
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0060
a0001c0002t0002g0091
a0001c0002t0002g0178
a0001c0002t0002g0231
a0001c0013t0002g0122
a0001c0062t0002g0097
a0007c0031t0002g0123
a0015c0029t0003g0226
a0015c0029t0003g0227
 21 HG00408.hp2
HG01070.hp1
HG01081.hp2
others(18): Show 
HG00408.hp2
HG01070.hp1
HG01081.hp2
HG01243.hp2
HG01515.hp1
HG01517.hp1
HG01928.hp2
HG02132.hp2
HG02683.hp2
HG02698.hp1
HG03654.hp2
HG03688.hp1
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
NA18945.hp2
NA19002.hp1
NA19064.hp1
NA19088.hp1
 intron_variant MODIFIER c.107-6721C>T
c.107-6721C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461521
chr21:45461584 G
G
 T
T
 3 a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
 3 HG02965.hp1
HG03041.hp1
NA19043.hp1
HG02965.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-6658G>T
c.107-6658G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461584
chr21:45461591 C
C
 A
A
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-6651C>A
c.107-6651C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461591
chr21:45461593 C
C
 G
G
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-6649C>G
c.107-6649C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461593
chr21:45461605 C
C
 CCTT
CCTT
 21 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0007t0002g0194
others(18): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 21 HG01258.hp2
HG01346.hp2
HG02055.hp1
others(18): Show 
HG01258.hp2
HG01346.hp2
HG02055.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-6636_107-6634d
others(5): Show 
c.107-6636_107-6634dupCTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45461605
chr21:45461609 G
G
 C
C
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-6633G>C
c.107-6633G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461609
chr21:45461787 C
C
 A
A
 8 a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0084t0002g0212
others(5): Show 
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 8 HG00639.hp2
HG01167.hp1
HG01243.hp1
others(5): Show 
HG00639.hp2
HG01167.hp1
HG01243.hp1
HG02895.hp2
HG03239.hp1
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-6455C>A
c.107-6455C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461787
chr21:45461826 C
C
 T
T
 2 a0001c0001t0001g0228
a0001c0002t0002g0269
a0001c0001t0001g0228
a0001c0002t0002g0269
 2 NA18949.hp1
NA18949.hp2
NA18949.hp1
NA18949.hp2
 intron_variant MODIFIER c.107-6416C>T
c.107-6416C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461826
chr21:45461841 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6401A>G
c.107-6401A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461841
chr21:45461912 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6330T>C
c.107-6330T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461912
chr21:45461947 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6295C>T
c.107-6295C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461947
chr21:45461948 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6294A>G
c.107-6294A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45461948
chr21:45462021 C
C
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6221C>A
c.107-6221C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462021
chr21:45462069 T
T
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6173T>A
c.107-6173T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462069
chr21:45462117 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6125T>C
c.107-6125T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462117
chr21:45462122 C
C
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6120C>G
c.107-6120C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462122
chr21:45462165 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-6077A>G
c.107-6077A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462165
chr21:45462193 TTC
TTC
 T
T
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-6041_107-6040d
others(4): Show 
c.107-6041_107-6040delCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45462193
chr21:45462253 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5989T>C
c.107-5989T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462253
chr21:45462282 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5960A>G
c.107-5960A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462282
chr21:45462311 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5931T>C
c.107-5931T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462311
chr21:45462319 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5923C>T
c.107-5923C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462319
chr21:45462337 T
T
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5905T>G
c.107-5905T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462337
chr21:45462341 A
A
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5901A>T
c.107-5901A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462341
chr21:45462351 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5891T>C
c.107-5891T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462351
chr21:45462451 T
T
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5791T>A
c.107-5791T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462451
chr21:45462673 G
G
 C
C
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-5569G>C
c.107-5569G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462673
chr21:45462762 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5480A>G
c.107-5480A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462762
chr21:45462823 TGTGTTAA
others(3): Show 
TGTGTTAAAAA
 T
T
 1 a0002c0084t0002g0212
a0002c0084t0002g0212
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.107-5415_107-5406d
others(12): Show 
c.107-5415_107-5406delTTAAAAAGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45462823
chr21:45462865 G
G
 GAAGTC
GAAGTC
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5375_107-5374i
others(7): Show 
c.107-5375_107-5374insGTCAA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45462865
chr21:45462928 T
T
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5314T>A
c.107-5314T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45462928
chr21:45463054 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-5188C>T
c.107-5188C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463054
chr21:45463159 C
C
 G
G
 87 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(84): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 87 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(84): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-5083C>G
c.107-5083C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463159
chr21:45463239 A
A
 G
G
 90 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(87): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 90 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(87): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-5003A>G
c.107-5003A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463239
chr21:45463242 G
G
 A
A
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.107-5000G>A
c.107-5000G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463242
chr21:45463263 A
A
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-4979A>T
c.107-4979A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463263
chr21:45463293 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-4949C>T
c.107-4949C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463293
chr21:45463417 G
G
 A
A
 1 a0001c0002t0002g0178
a0001c0002t0002g0178
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.107-4825G>A
c.107-4825G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463417
chr21:45463422 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4820C>T
c.107-4820C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463422
chr21:45463437 G
G
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4805G>C
c.107-4805G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463437
chr21:45463552 C
C
 T
T
 2 a0036c0048t0004g0184
a0037c0049t0004g0183
a0036c0048t0004g0184
a0037c0049t0004g0183
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.107-4690C>T
c.107-4690C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463552
chr21:45463553 A
A
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.107-4689A>G
c.107-4689A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463553
chr21:45463588 G
G
 A
A
 2 a0015c0029t0003g0226
a0015c0029t0003g0227
a0015c0029t0003g0226
a0015c0029t0003g0227
 2 HG01515.hp1
HG01517.hp1
HG01515.hp1
HG01517.hp1
 intron_variant MODIFIER c.107-4654G>A
c.107-4654G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463588
chr21:45463601 A
A
 G
G
 4 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(1): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 4 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(1): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.107-4641A>G
c.107-4641A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463601
chr21:45463672 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4570C>T
c.107-4570C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463672
chr21:45463688 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-4554G>A
c.107-4554G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463688
chr21:45463695 G
G
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4547G>C
c.107-4547G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463695
chr21:45463726 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4516C>T
c.107-4516C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463726
chr21:45463748 T
T
 C
C
 1 a0021c0086t0002g0176
a0021c0086t0002g0176
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.107-4494T>C
c.107-4494T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463748
chr21:45463758 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4484A>G
c.107-4484A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463758
chr21:45463779 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4463C>T
c.107-4463C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463779
chr21:45463789 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4453C>T
c.107-4453C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463789
chr21:45463791 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4451G>A
c.107-4451G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463791
chr21:45463896 T
T
 TA
TA
 6 a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0073t0003g0034
others(3): Show 
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
 6 HG01891.hp1
HG02109.hp1
HG02970.hp1
others(3): Show 
HG01891.hp1
HG02109.hp1
HG02970.hp1
HG03471.hp1
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.107-4334dupA
c.107-4334dupA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45463896
chr21:45463896 TA
TA
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4334delA
c.107-4334delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45463896
chr21:45463907 A
A
 G
G
 1 a0008c0018t0005g0130
a0008c0018t0005g0130
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.107-4335A>G
c.107-4335A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463907
chr21:45463909 G
G
 A
A
 2 a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0010t0002g0151
a0003c0010t0006g0014
 2 NA18944.hp1
NA19010.hp2
NA18944.hp1
NA19010.hp2
 intron_variant MODIFIER c.107-4333G>A
c.107-4333G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45463909
chr21:45464024 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4218T>C
c.107-4218T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464024
chr21:45464111 C
C
 G
G
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-4131C>G
c.107-4131C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464111
chr21:45464121 C
C
 T
T
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-4121C>T
c.107-4121C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464121
chr21:45464167 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4075A>G
c.107-4075A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464167
chr21:45464171 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4071C>T
c.107-4071C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464171
chr21:45464236 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-4006G>A
c.107-4006G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464236
chr21:45464258 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3984A>G
c.107-3984A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464258
chr21:45464270 T
T
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3972T>G
c.107-3972T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464270
chr21:45464319 G
G
 A
A
 12 a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
others(9): Show 
a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0017t0003g0205
 12 HG00280.hp1
HG01192.hp1
HG01257.hp1
others(9): Show 
HG00280.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02273.hp1
NA20300.hp1
 intron_variant MODIFIER c.107-3923G>A
c.107-3923G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464319
chr21:45464419 A
A
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3823A>C
c.107-3823A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464419
chr21:45464443 G
G
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3799G>T
c.107-3799G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464443
chr21:45464465 C
C
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3777C>A
c.107-3777C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464465
chr21:45464526 A
A
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.107-3716A>G
c.107-3716A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464526
chr21:45464530 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3712C>T
c.107-3712C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464530
chr21:45464686 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3556C>T
c.107-3556C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464686
chr21:45464727 C
C
 T
T
 1 a0001c0002t0002g0047
a0001c0002t0002g0047
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.107-3515C>T
c.107-3515C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464727
chr21:45464730 C
C
 A
A
 14 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(11): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 14 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(11): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-3512C>A
c.107-3512C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464730
chr21:45464772 C
C
 A
A
 3 a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
 3 HG01515.hp1
HG01517.hp1
HG03654.hp2
HG01515.hp1
HG01517.hp1
HG03654.hp2
 intron_variant MODIFIER c.107-3470C>A
c.107-3470C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464772
chr21:45464783 C
C
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-3459C>T
c.107-3459C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464783
chr21:45464784 G
G
 A
A
 1 a0001c0007t0002g0078
a0001c0007t0002g0078
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.107-3458G>A
c.107-3458G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464784
chr21:45464809 A
A
 T
T
 289 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(286): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.107-3433A>T
c.107-3433A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464809
chr21:45464904 G
G
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-3338G>A
c.107-3338G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464904
chr21:45464981 A
A
 C
C
 2 a0001c0004t0001g0018
a0001c0004t0016g0051
a0001c0004t0001g0018
a0001c0004t0016g0051
 2 HG02486.hp1
NA19240.hp1
HG02486.hp1
NA19240.hp1
 intron_variant MODIFIER c.107-3261A>C
c.107-3261A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45464981
chr21:45465071 A
A
 G
G
 3 a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 3 HG01891.hp2
HG02145.hp1
HG03225.hp1
HG01891.hp2
HG02145.hp1
HG03225.hp1
 intron_variant MODIFIER c.107-3171A>G
c.107-3171A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465071
chr21:45465085 C
C
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3157C>G
c.107-3157C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465085
chr21:45465090 C
C
 T
T
 1 a0001c0004t0001g0064
a0001c0004t0001g0064
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.107-3152C>T
c.107-3152C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465090
chr21:45465118 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3124T>C
c.107-3124T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465118
chr21:45465136 G
G
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.107-3106G>A
c.107-3106G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465136
chr21:45465136 G
G
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3106G>C
c.107-3106G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465136
chr21:45465193 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-3049G>A
c.107-3049G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465193
chr21:45465265 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2977C>T
c.107-2977C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465265
chr21:45465280 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2962A>G
c.107-2962A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465280
chr21:45465313 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2929C>T
c.107-2929C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465313
chr21:45465344 CG
CG
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2894delG
c.107-2894delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45465344
chr21:45465489 G
G
 A
A
 1 a0001c0007t0002g0185
a0001c0007t0002g0185
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.107-2753G>A
c.107-2753G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465489
chr21:45465496 T
T
 C
C
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.107-2746T>C
c.107-2746T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465496
chr21:45465658 T
T
 C
C
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.107-2584T>C
c.107-2584T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465658
chr21:45465668 C
C
 T
T
 64 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(61): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 64 HG00423.hp1
HG00544.hp2
HG00609.hp1
others(61): Show 
HG00423.hp1
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.107-2574C>T
c.107-2574C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465668
chr21:45465674 G
G
 A
A
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.107-2568G>A
c.107-2568G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465674
chr21:45465709 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2533C>T
c.107-2533C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465709
chr21:45465723 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2519A>G
c.107-2519A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465723
chr21:45465748 C
C
 T
T
 2 a0001c0004t0001g0026
a0001c0063t0001g0144
a0001c0004t0001g0026
a0001c0063t0001g0144
 2 HG02615.hp2
HG06807.hp1
HG02615.hp2
HG06807.hp1
 intron_variant MODIFIER c.107-2494C>T
c.107-2494C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465748
chr21:45465772 TG
TG
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2466delG
c.107-2466delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45465772
chr21:45465781 T
T
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2461T>G
c.107-2461T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465781
chr21:45465794 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2448A>G
c.107-2448A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465794
chr21:45465828 G
G
 A
A
 1 a0035c0078t0001g0115
a0035c0078t0001g0115
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.107-2414G>A
c.107-2414G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465828
chr21:45465865 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-2377G>A
c.107-2377G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465865
chr21:45465874 G
G
 A
A
 2 a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0004t0001g0174
a0001c0004t0001g0267
 2 NA18959.hp2
NA19002.hp2
NA18959.hp2
NA19002.hp2
 intron_variant MODIFIER c.107-2368G>A
c.107-2368G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45465874
chr21:45466057 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2185C>T
c.107-2185C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466057
chr21:45466107 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2135G>A
c.107-2135G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466107
chr21:45466140 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-2102A>G
c.107-2102A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466140
chr21:45466159 G
G
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-2083G>T
c.107-2083G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466159
chr21:45466246 C
C
 T
T
 14 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(11): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 14 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(11): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA20905.hp2
 intron_variant MODIFIER c.107-1996C>T
c.107-1996C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466246
chr21:45466247 G
G
 A
A
 1 a0001c0005t0003g0211
a0001c0005t0003g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.107-1995G>A
c.107-1995G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466247
chr21:45466363 C
C
 T
T
 1 a0001c0003t0001g0287
a0001c0003t0001g0287
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-1879C>T
c.107-1879C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466363
chr21:45466438 C
C
 T
T
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.107-1804C>T
c.107-1804C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466438
chr21:45466455 TTGAGCTC
others(16): Show 
TTGAGCTCTCGCACCCGGGAAGGC
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.107-1753_107-1731d
others(25): Show 
c.107-1753_107-1731delCACCCGGGAAGGCTGAGCTCTCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 INFO_REALIGN_3_PRIME chr21 45466455
chr21:45466510 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-1732C>T
c.107-1732C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466510
chr21:45466567 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-1675T>C
c.107-1675T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466567
chr21:45466610 G
G
 T
T
 13 a0001c0054t0002g0201
a0002c0012t0004g0040
a0002c0012t0004g0049
others(10): Show 
a0001c0054t0002g0201
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 13 HG00639.hp2
HG01167.hp1
HG01243.hp1
others(10): Show 
HG00639.hp2
HG01167.hp1
HG01243.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.107-1632G>T
c.107-1632G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466610
chr21:45466700 G
G
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-1542G>T
c.107-1542G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466700
chr21:45466796 C
C
 T
T
 74 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(71): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 74 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(71): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-1446C>T
c.107-1446C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466796
chr21:45466840 C
C
 T
T
 1 a0003c0009t0001g0247
a0003c0009t0001g0247
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.107-1402C>T
c.107-1402C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466840
chr21:45466842 C
C
 T
T
 3 a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 3 HG01891.hp2
HG02145.hp1
HG03225.hp1
HG01891.hp2
HG02145.hp1
HG03225.hp1
 intron_variant MODIFIER c.107-1400C>T
c.107-1400C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466842
chr21:45466856 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-1386T>C
c.107-1386T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466856
chr21:45466906 T
T
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-1336T>G
c.107-1336T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466906
chr21:45466915 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-1327C>T
c.107-1327C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45466915
chr21:45467039 G
G
 C
C
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.107-1203G>C
c.107-1203G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467039
chr21:45467213 C
C
 T
T
 74 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(71): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 74 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(71): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-1029C>T
c.107-1029C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467213
chr21:45467248 C
C
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.107-994C>T
c.107-994C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467248
chr21:45467437 A
A
 G
G
 2 a0009c0016t0002g0252
a0025c0050t0002g0108
a0009c0016t0002g0252
a0025c0050t0002g0108
 2 HG03654.hp1
HG04184.hp1
HG03654.hp1
HG04184.hp1
 intron_variant MODIFIER c.107-805A>G
c.107-805A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467437
chr21:45467487 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-755A>G
c.107-755A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467487
chr21:45467543 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-699G>A
c.107-699G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467543
chr21:45467547 A
A
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-695A>C
c.107-695A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467547
chr21:45467567 T
T
 A
A
 74 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(71): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 74 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(71): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-675T>A
c.107-675T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467567
chr21:45467568 C
C
 A
A
 74 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(71): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 74 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(71): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-674C>A
c.107-674C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467568
chr21:45467570 C
C
 T
T
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-672C>T
c.107-672C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467570
chr21:45467571 G
G
 C
C
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.107-671G>C
c.107-671G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467571
chr21:45467576 G
G
 A
A
 2 a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0020t0003g0156
a0002c0021t0002g0148
 2 HG03041.hp1
NA19043.hp1
HG03041.hp1
NA19043.hp1
 intron_variant MODIFIER c.107-666G>A
c.107-666G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467576
chr21:45467655 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-587C>T
c.107-587C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467655
chr21:45467660 G
G
 T
T
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.107-582G>T
c.107-582G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467660
chr21:45467757 A
A
 G
G
 1 a0001c0017t0002g0179
a0001c0017t0002g0179
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.107-485A>G
c.107-485A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467757
chr21:45467823 C
C
 T
T
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.107-419C>T
c.107-419C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45467823
chr21:45468025 T
T
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-217T>G
c.107-217T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45468025
chr21:45468065 A
A
 T
T
 88 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(85): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 88 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(85): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.107-177A>T
c.107-177A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45468065
chr21:45468074 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.107-168G>A
c.107-168G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 2/41 chr21 45468074
chr21:45468792 C
C
 G
G
 1 a0001c0002t0002g0231
a0001c0002t0002g0231
 1 HG02132.hp2
HG02132.hp2
 splice_region_variant&intron_variant LOW c.651+6C>G
c.651+6C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468792
chr21:45468825 CTGGGA
CTGGGA
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+44_651+48delAT
others(3): Show 
c.651+44_651+48delATGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45468825
chr21:45468914 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.651+128C>T
c.651+128C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468914
chr21:45468915 G
G
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+129G>T
c.651+129G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468915
chr21:45468935 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+149C>T
c.651+149C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468935
chr21:45468936 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+150T>C
c.651+150T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468936
chr21:45468965 C
C
 T
T
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+179C>T
c.651+179C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468965
chr21:45468969 G
G
 A
A
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.651+183G>A
c.651+183G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468969
chr21:45468992 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.651+206G>A
c.651+206G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45468992
chr21:45469086 G
G
 A
A
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+300G>A
c.651+300G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469086
chr21:45469151 C
C
 G
G
 1 a0003c0009t0001g0167
a0003c0009t0001g0167
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.651+365C>G
c.651+365C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469151
chr21:45469161 A
A
 G
G
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+375A>G
c.651+375A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469161
chr21:45469166 C
C
 T
T
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.651+380C>T
c.651+380C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469166
chr21:45469190 T
T
 C
C
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+404T>C
c.651+404T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469190
chr21:45469229 G
G
 A
A
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.651+443G>A
c.651+443G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469229
chr21:45469263 C
C
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.651+477C>T
c.651+477C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469263
chr21:45469567 G
G
 T
T
 2 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0001t0001g0142
a0001c0002t0012g0109
 2 HG02145.hp2
HG02809.hp2
HG02145.hp2
HG02809.hp2
 intron_variant MODIFIER c.651+781G>T
c.651+781G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469567
chr21:45469571 G
G
 A
A
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+785G>A
c.651+785G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469571
chr21:45469577 C
C
 G
G
 72 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(69): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 72 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(69): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+791C>G
c.651+791C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469577
chr21:45469651 C
C
 T
T
 76 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(73): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 76 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(73): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+865C>T
c.651+865C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469651
chr21:45469652 G
G
 A
A
 35 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(32): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 35 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(32): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.651+866G>A
c.651+866G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469652
chr21:45469752 G
G
 T
T
 74 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(71): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 74 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(71): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+966G>T
c.651+966G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469752
chr21:45469768 C
C
 G
G
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.651+982C>G
c.651+982C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469768
chr21:45469970 G
G
 A
A
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.651+1184G>A
c.651+1184G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45469970
chr21:45470062 C
C
 T
T
 3 a0001c0054t0002g0201
a0022c0068t0010g0004
a0024c0066t0010g0066
a0001c0054t0002g0201
a0022c0068t0010g0004
a0024c0066t0010g0066
 3 HG01243.hp1
HG02895.hp2
NA19240.hp2
HG01243.hp1
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.651+1276C>T
c.651+1276C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470062
chr21:45470085 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.651+1299A>G
c.651+1299A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470085
chr21:45470135 G
G
 A
A
 4 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
others(1): Show 
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.651+1349G>A
c.651+1349G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470135
chr21:45470170 C
C
 T
T
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.651+1384C>T
c.651+1384C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470170
chr21:45470219 T
T
 TGTTA
TGTTA
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+1435_651+1436i
others(6): Show 
c.651+1435_651+1436insTAGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470219
chr21:45470310 A
A
 G
G
 12 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(9): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 12 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(9): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+1524A>G
c.651+1524A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470310
chr21:45470321 C
C
 T
T
 1 a0001c0001t0013g0276
a0001c0001t0013g0276
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.651+1535C>T
c.651+1535C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470321
chr21:45470401 A
A
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.651+1615A>T
c.651+1615A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470401
chr21:45470425 C
C
 CT
CT
 53 a0001c0001t0001g0033
a0001c0001t0001g0124
a0001c0001t0001g0125
others(50): Show 
a0001c0001t0001g0033
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0192
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0091
a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0238
a0001c0003t0001g0110
a0001c0003t0001g0182
a0001c0003t0001g0287
a0001c0008t0002g0260
a0001c0011t0001g0016
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0081t0003g0154
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0004c0057t0002g0035
a0007c0031t0002g0123
a0007c0034t0001g0141
a0007c0034t0001g0282
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0020c0094t0011g0075
a0027c0070t0001g0012
a0033c0077t0003g0098
 53 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(50): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00597.hp1
HG00733.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01515.hp1
HG01517.hp1
HG01928.hp2
HG01943.hp1
HG02135.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02559.hp2
HG02572.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02970.hp2
HG03098.hp2
HG03195.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18945.hp1
NA18945.hp2
NA18959.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp1
NA19005.hp1
NA19007.hp2
NA19060.hp2
NA19064.hp1
NA19088.hp1
NA20905.hp2
 intron_variant MODIFIER c.651+1660dupT
c.651+1660dupT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470425
chr21:45470425 C
C
 CTT
CTT
 41 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0003t0001g0043
others(38): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0053t0001g0244
a0001c0082t0008g0053
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0099t0003g0030
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0013c0051t0001g0195
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 41 HG00099.hp2
HG00140.hp2
HG00544.hp1
others(38): Show 
HG00099.hp2
HG00140.hp2
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01993.hp2
HG02004.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18944.hp1
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19010.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.651+1659_651+1660d
others(4): Show 
c.651+1659_651+1660dupTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470425
chr21:45470425 C
C
 CTTT
CTTT
 14 a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0085
others(11): Show 
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0025t0002g0164
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0026c0044t0001g0037
 14 HG00438.hp1
HG00735.hp2
HG01106.hp1
others(11): Show 
HG00438.hp1
HG00735.hp2
HG01106.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02630.hp2
HG02809.hp2
HG02922.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
NA19064.hp2
 intron_variant MODIFIER c.651+1658_651+1660d
others(5): Show 
c.651+1658_651+1660dupTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470425
chr21:45470425 CT
CT
 C
C
 55 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(52): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0203
a0001c0001t0001g0234
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0178
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0030t0002g0285
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 55 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(52): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01070.hp1
HG01257.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01515.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02486.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03540.hp2
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.651+1660delT
c.651+1660delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470425
chr21:45470425 CTT
CTT
 C
C
 11 a0001c0004t0001g0018
a0001c0004t0001g0214
a0001c0004t0016g0051
others(8): Show 
a0001c0004t0001g0018
a0001c0004t0001g0214
a0001c0004t0016g0051
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0091t0001g0056
a0012c0088t0002g0006
 11 HG01074.hp2
HG01081.hp1
HG02451.hp1
others(8): Show 
HG01074.hp2
HG01081.hp1
HG02451.hp1
HG02486.hp1
HG02965.hp1
HG03041.hp1
HG03688.hp2
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.651+1659_651+1660d
others(4): Show 
c.651+1659_651+1660delTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470425
chr21:45470425 CTTTT
CTTTT
 C
C
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.651+1657_651+1660d
others(6): Show 
c.651+1657_651+1660delTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470425
chr21:45470478 TG
TG
 T
T
 31 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(28): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0005t0006g0173
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0100t0001g0039
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 31 HG01074.hp2
HG01081.hp1
HG01258.hp2
others(28): Show 
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01891.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03225.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19043.hp2
NA19091.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.651+1695delG
c.651+1695delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470478
chr21:45470481 G
G
 GT
GT
 18 a0001c0001t0001g0250
a0001c0002t0002g0060
a0001c0062t0002g0097
others(15): Show 
a0001c0001t0001g0250
a0001c0002t0002g0060
a0001c0062t0002g0097
a0002c0012t0004g0058
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0015c0029t0003g0226
a0015c0029t0003g0227
 18 HG00544.hp1
HG01515.hp1
HG01517.hp1
others(15): Show 
HG00544.hp1
HG01515.hp1
HG01517.hp1
HG02683.hp1
HG02698.hp1
HG03239.hp1
HG03654.hp2
HG03688.hp1
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA20905.hp2
 intron_variant MODIFIER c.651+1705dupT
c.651+1705dupT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470481
chr21:45470481 G
G
 T
T
 52 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
others(49): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 52 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(49): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.651+1695G>T
c.651+1695G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470481
chr21:45470490 T
T
 G
G
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.651+1704T>G
c.651+1704T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470490
chr21:45470491 T
T
 G
G
 49 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
others(46): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 49 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(46): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.651+1705T>G
c.651+1705T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470491
chr21:45470492 G
G
 GT
GT
 18 a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0013t0002g0122
others(15): Show 
a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0069t0005g0038
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 18 HG00099.hp1
HG00597.hp1
HG00642.hp1
others(15): Show 
HG00099.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG02109.hp2
HG02132.hp1
HG02630.hp2
HG03098.hp2
HG03130.hp1
HG03579.hp1
HG03927.hp2
HG04228.hp2
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
 intron_variant MODIFIER c.651+1719dupT
c.651+1719dupT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470492
chr21:45470492 G
G
 T
T
 49 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
others(46): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 49 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(46): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.651+1706G>T
c.651+1706G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470492
chr21:45470517 C
C
 T
T
 1 a0001c0007t0002g0185
a0001c0007t0002g0185
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.651+1731C>T
c.651+1731C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470517
chr21:45470525 T
T
 C
C
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.651+1739T>C
c.651+1739T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470525
chr21:45470545 G
G
 A
A
 3 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
 3 HG02258.hp2
HG02572.hp2
HG02717.hp2
HG02258.hp2
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.651+1759G>A
c.651+1759G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470545
chr21:45470589 C
C
 T
T
 1 a0001c0001t0001g0253
a0001c0001t0001g0253
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.651+1803C>T
c.651+1803C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470589
chr21:45470915 T
T
 TGGGCTG
TGGGCTG
 46 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(43): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0003c0009t0001g0247
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 46 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(43): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19064.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.651+2134_651+2139d
others(8): Show 
c.651+2134_651+2139dupTGGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470915
chr21:45470926 CCTGCTGG
others(28): Show 
CCTGCTGGGCGTGGGTGGCGTGCAGCAGGCCGTGTG
 C
C
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.651+2160_651+2194d
others(37): Show 
c.651+2160_651+2194delTGCAGCAGGCCGTGTGCTGCTGGGCGTG
GGTGGCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45470926
chr21:45470950 G
G
 C
C
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.651+2164G>C
c.651+2164G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470950
chr21:45470987 A
A
 G
G
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+2201A>G
c.651+2201A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470987
chr21:45470994 G
G
 A
A
 3 a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
a0001c0001t0001g0250
a0015c0029t0003g0226
a0015c0029t0003g0227
 3 HG01515.hp1
HG01517.hp1
HG03654.hp2
HG01515.hp1
HG01517.hp1
HG03654.hp2
 intron_variant MODIFIER c.651+2208G>A
c.651+2208G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45470994
chr21:45471027 T
T
 TC
TC
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+2241_651+2242i
others(3): Show 
c.651+2241_651+2242insC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471027
chr21:45471061 TTGTGCTG
others(28): Show 
TTGTGCTGCTGGGCCTGGGTGGCGCGCTACGGGCCG
 T
T
 12 a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
others(9): Show 
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 12 HG00099.hp1
HG00597.hp1
HG00642.hp1
others(9): Show 
HG00099.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG02132.hp1
HG03927.hp2
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
 intron_variant MODIFIER c.651+2300_651+2334d
others(37): Show 
c.651+2300_651+2334delGCTACGGGCCGTGTGCTGCTGGGCCTGG
GTGGCGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45471061
chr21:45471090 C
C
 T
T
 3 a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
 3 HG01943.hp1
HG01993.hp2
HG02004.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
 intron_variant MODIFIER c.651+2304C>T
c.651+2304C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471090
chr21:45471126 G
G
 A
A
 3 a0002c0012t0004g0040
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0012t0004g0040
a0002c0012t0004g0199
a0002c0067t0001g0041
 3 HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02280.hp2
HG02622.hp2
HG02886.hp2
 intron_variant MODIFIER c.651+2340G>A
c.651+2340G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471126
chr21:45471180 G
G
 T
T
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.651+2394G>T
c.651+2394G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471180
chr21:45471200 C
C
 G
G
 2 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0008
a0001c0022t0001g0021
 2 HG03209.hp2
HG03471.hp2
HG03209.hp2
HG03471.hp2
 intron_variant MODIFIER c.651+2414C>G
c.651+2414C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471200
chr21:45471223 T
T
 G
G
 53 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
others(50): Show 
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 53 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(50): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.651+2437T>G
c.651+2437T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471223
chr21:45471255 G
G
 A
A
 1 a0005c0058t0001g0165
a0005c0058t0001g0165
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.651+2469G>A
c.651+2469G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471255
chr21:45471540 C
C
 T
T
 1 a0001c0001t0001g0273
a0001c0001t0001g0273
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.652-2355C>T
c.652-2355C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45471540
chr21:45471749 ATTTCCAG
others(8): Show 
ATTTCCAGCTGTGTCC
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.652-2144_652-2130d
others(17): Show 
c.652-2144_652-2130delTTCCAGCTGTGTCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 INFO_REALIGN_3_PRIME chr21 45471749
chr21:45472033 C
C
 T
T
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.652-1862C>T
c.652-1862C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472033
chr21:45472034 G
G
 A
A
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.652-1861G>A
c.652-1861G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472034
chr21:45472062 G
G
 A
A
 1 a0009c0016t0001g0209
a0009c0016t0001g0209
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.652-1833G>A
c.652-1833G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472062
chr21:45472062 G
G
 C
C
 1 a0003c0045t0006g0242
a0003c0045t0006g0242
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.652-1833G>C
c.652-1833G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472062
chr21:45472080 G
G
 A
A
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.652-1815G>A
c.652-1815G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472080
chr21:45472160 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-1735G>A
c.652-1735G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472160
chr21:45472193 C
C
 T
T
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.652-1702C>T
c.652-1702C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472193
chr21:45472227 T
T
 G
G
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.652-1668T>G
c.652-1668T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472227
chr21:45472246 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.652-1649C>T
c.652-1649C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472246
chr21:45472247 G
G
 A
A
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.652-1648G>A
c.652-1648G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472247
chr21:45472263 G
G
 A
A
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.652-1632G>A
c.652-1632G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472263
chr21:45472347 C
C
 G
G
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.652-1548C>G
c.652-1548C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472347
chr21:45472372 C
C
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.652-1523C>T
c.652-1523C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472372
chr21:45472506 C
C
 T
T
 82 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(79): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
 82 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01261.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.652-1389C>T
c.652-1389C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472506
chr21:45472598 C
C
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.652-1297C>T
c.652-1297C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472598
chr21:45472613 G
G
 A
A
 1 a0001c0004t0001g0013
a0001c0004t0001g0013
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.652-1282G>A
c.652-1282G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472613
chr21:45472632 A
A
 G
G
 153 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(150): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 153 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(150): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.652-1263A>G
c.652-1263A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472632
chr21:45472658 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-1237C>T
c.652-1237C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472658
chr21:45472710 G
G
 A
A
 35 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(32): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 35 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(32): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.652-1185G>A
c.652-1185G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472710
chr21:45472722 T
T
 C
C
 4 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
others(1): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0012c0088t0002g0006
 4 HG01074.hp2
HG01081.hp1
NA18522.hp1
others(1): Show 
HG01074.hp2
HG01081.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.652-1173T>C
c.652-1173T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472722
chr21:45472737 G
G
 T
T
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.652-1158G>T
c.652-1158G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472737
chr21:45472810 C
C
 CT
CT
 88 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(85): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 88 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(85): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.652-1085_652-1084i
others(3): Show 
c.652-1085_652-1084insT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472810
chr21:45472856 CAT
CAT
 C
C
 7 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(4): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0012c0088t0002g0006
 7 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(4): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.652-1038_652-1037d
others(4): Show 
c.652-1038_652-1037delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472856
chr21:45472875 A
A
 G
G
 1 a0001c0008t0002g0260
a0001c0008t0002g0260
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.652-1020A>G
c.652-1020A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472875
chr21:45472876 T
T
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-1019T>C
c.652-1019T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472876
chr21:45472884 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-1011C>T
c.652-1011C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472884
chr21:45472895 C
C
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-1000C>A
c.652-1000C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472895
chr21:45472978 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-917C>T
c.652-917C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472978
chr21:45472979 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-916A>G
c.652-916A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45472979
chr21:45473008 G
G
 A
A
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.652-887G>A
c.652-887G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473008
chr21:45473035 G
G
 A
A
 3 a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0236
 3 HG00140.hp1
HG03704.hp2
NA18999.hp2
HG00140.hp1
HG03704.hp2
NA18999.hp2
 intron_variant MODIFIER c.652-860G>A
c.652-860G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473035
chr21:45473063 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-832C>T
c.652-832C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473063
chr21:45473095 C
C
 T
T
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.652-800C>T
c.652-800C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473095
chr21:45473096 C
C
 A
A
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.652-799C>A
c.652-799C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473096
chr21:45473107 T
T
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-788T>C
c.652-788T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473107
chr21:45473138 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-757A>G
c.652-757A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473138
chr21:45473147 A
A
 G
G
 171 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(168): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 171 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(168): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.652-748A>G
c.652-748A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473147
chr21:45473247 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-648G>A
c.652-648G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473247
chr21:45473371 T
T
 C
C
 168 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(165): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 168 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(165): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.652-524T>C
c.652-524T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473371
chr21:45473456 A
A
 G
G
 88 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(85): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 88 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(85): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.652-439A>G
c.652-439A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473456
chr21:45473512 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-383G>A
c.652-383G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473512
chr21:45473579 G
G
 A
A
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.652-316G>A
c.652-316G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473579
chr21:45473607 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.652-288G>A
c.652-288G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473607
chr21:45473636 C
C
 T
T
 2 a0001c0003t0001g0145
a0001c0082t0008g0053
a0001c0003t0001g0145
a0001c0082t0008g0053
 2 HG02818.hp1
HG03579.hp2
HG02818.hp1
HG03579.hp2
 intron_variant MODIFIER c.652-259C>T
c.652-259C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473636
chr21:45473645 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-250C>T
c.652-250C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473645
chr21:45473646 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.652-249A>G
c.652-249A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473646
chr21:45473666 C
C
 T
T
 1 a0001c0001t0004g0223
a0001c0001t0004g0223
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.652-229C>T
c.652-229C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473666
chr21:45473730 T
T
 C
C
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.652-165T>C
c.652-165T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473730
chr21:45473853 A
A
 G
G
 92 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(89): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 92 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(89): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.652-42A>G
c.652-42A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 3/41 chr21 45473853
chr21:45474000 A
A
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+19A>C
c.738+19A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474000
chr21:45474001 C
C
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.738+20C>T
c.738+20C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474001
chr21:45474048 G
G
 C
C
 1 a0001c0079t0001g0042
a0001c0079t0001g0042
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.738+67G>C
c.738+67G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474048
chr21:45474081 C
C
 G
G
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0008c0101t0005g0027
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.738+100C>G
c.738+100C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474081
chr21:45474088 C
C
 T
T
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.738+107C>T
c.738+107C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474088
chr21:45474102 G
G
 A
A
 1 a0002c0103t0001g0136
a0002c0103t0001g0136
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.738+121G>A
c.738+121G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474102
chr21:45474107 C
C
 T
T
 12 a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
others(9): Show 
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0222
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
a0005c0036t0001g0245
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
 12 HG00609.hp1
HG02071.hp2
HG02080.hp2
others(9): Show 
HG00609.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18966.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
 intron_variant MODIFIER c.738+126C>T
c.738+126C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474107
chr21:45474250 A
A
 AGT
AGT
 153 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(150): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 153 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(150): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.738+282_738+283dup
others(2): Show 
c.738+282_738+283dupGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474250
chr21:45474265 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+284C>G
c.738+284C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474265
chr21:45474271 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+290C>G
c.738+290C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474271
chr21:45474275 GTGGTGTG
others(11): Show 
GTGGTGTGTCTCTGTGTCT
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+297_738+314del
others(18): Show 
c.738+297_738+314delGTGTGTCTCTGTGTCTTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474275
chr21:45474293 T
T
 TTGTGTGG
others(19): Show 
TTGTGTGGTGTGTCTCTGTGTCTTGTG
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.738+331_738+332ins
others(26): Show 
c.738+331_738+332insTCTTGTGTGTGTGGTGTGTCTCTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474293
chr21:45474315 GTGTC
GTGTC
 G
G
 11 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(8): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0004c0100t0001g0039
a0008c0101t0005g0027
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 11 HG02451.hp2
HG02559.hp1
HG02572.hp1
others(8): Show 
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.738+340_738+343del
others(4): Show 
c.738+340_738+343delGTCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474315
chr21:45474333 G
G
 A
A
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.738+352G>A
c.738+352G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474333
chr21:45474391 A
A
 ATGTC
ATGTC
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.738+413_738+414ins
others(4): Show 
c.738+413_738+414insCTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474391
chr21:45474445 C
C
 CTGTGTT
CTGTGTT
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.738+469_738+470ins
others(6): Show 
c.738+469_738+470insTTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474445
chr21:45474479 CTG
CTG
 C
C
 88 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(85): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 88 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(85): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.738+507_738+508del
others(2): Show 
c.738+507_738+508delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474479
chr21:45474545 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.738+564C>T
c.738+564C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474545
chr21:45474552 CTCTGTG
CTCTGTG
 C
C
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.738+585_738+590del
others(6): Show 
c.738+585_738+590delCTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474552
chr21:45474577 G
G
 A
A
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.738+596G>A
c.738+596G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474577
chr21:45474596 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+615G>A
c.738+615G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474596
chr21:45474663 A
A
 C
C
 44 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(41): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.738+682A>C
c.738+682A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474663
chr21:45474693 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+712G>A
c.738+712G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474693
chr21:45474697 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+716C>T
c.738+716C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474697
chr21:45474700 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+719G>A
c.738+719G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474700
chr21:45474706 A
A
 ATGGACCC
others(193): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 3 a0001c0002t0002g0178
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0002t0002g0178
a0001c0027t0001g0019
a0001c0027t0001g0020
 3 HG01070.hp1
HG02258.hp1
HG02723.hp2
HG01070.hp1
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.739-721_739-720ins
others(200): Show 
c.739-721_739-720insATGGACCCACAGCCTCGCTCCTGGGGGCGT
GGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGT
GGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGT
GGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGT
GGGCAGGAGACGCCGTGGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(93): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 1 a0001c0002t0002g0236
a0001c0002t0002g0236
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.739-680_739-679ins
others(100): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(143): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 1 a0001c0002t0002g0117
a0001c0002t0002g0117
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.739-680_739-679ins
others(150): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(193): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 132 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
others(129): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0249
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0004c0057t0002g0035
a0005c0058t0001g0165
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 132 HG00099.hp1
HG00280.hp1
HG00280.hp2
others(129): Show 
HG00099.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01123.hp1
HG01167.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02165.hp1
HG02273.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG03098.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18959.hp1
NA18961.hp1
NA18964.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp1
NA19005.hp1
NA19007.hp1
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.739-680_739-679ins
others(200): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(243): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.739-680_739-679ins
others(250): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(243): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTTGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 1 a0001c0041t0001g0155
a0001c0041t0001g0155
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.739-706_739-705ins
others(250): Show 
c.739-706_739-705insTGCTCCTGGGGGCGTGGGCAGGAGACGCCG
TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG
TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG
TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG
TGGACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCG
TGGACGTGGACCCACAGCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(193): Show 
ATGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAT
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
G
 3 a0001c0004t0001g0271
a0001c0005t0002g0280
a0005c0036t0001g0292
a0001c0004t0001g0271
a0001c0005t0002g0280
a0005c0036t0001g0292
 3 HG00423.hp1
HG03927.hp1
NA18977.hp1
HG00423.hp1
HG03927.hp1
NA18977.hp1
 intron_variant MODIFIER c.739-722_739-721ins
others(200): Show 
c.739-722_739-721insTGTGGACCCACAGCCTCGCTCCTGGGGGCG
TGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCG
TGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCG
TGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGGGGGCG
TGGGCAGGAGACGCCGTGGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474706 A
A
 ATGGACCC
others(191): Show 
ATGGACCCACAGCCTTGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGAC
GTGGACCCACAGCCTCGCTCCTGGGCGTGGGCAGGAGACGCCGTGGACGT
GGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGACGT
GGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTGGACG
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.738+739_738+740ins
others(198): Show 
c.738+739_738+740insTGCTCCTGGGGGCGTGGGCAGGAGACGCCG
TGGACGTGGACCCACAGCCTCGCTCCTGGGCGTGGGCAGGAGACGCCGTG
GACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTG
GACGTGGACCCACAGCCTCGCTCCTGGGGGCGTGGGCAGGAGACGCCGTG
GACGTGGACCCACAGCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474706
chr21:45474730 G
G
 GGGCGTGG
others(193): Show 
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
C
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.739-680_739-679ins
others(200): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGCGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474730
chr21:45474780 G
G
 C
C
 6 a0001c0004t0001g0271
a0001c0005t0002g0280
a0001c0037t0001g0062
others(3): Show 
a0001c0004t0001g0271
a0001c0005t0002g0280
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0005c0036t0001g0292
 6 HG00423.hp1
HG02145.hp1
HG02970.hp2
others(3): Show 
HG00423.hp1
HG02145.hp1
HG02970.hp2
HG03195.hp1
HG03927.hp1
NA18977.hp1
 intron_variant MODIFIER c.739-696G>C
c.739-696G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474780
chr21:45474780 G
G
 GGGCGTGG
others(93): Show 
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
C
 13 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(10): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
 13 HG00544.hp1
HG02683.hp1
HG04228.hp1
others(10): Show 
HG00544.hp1
HG02683.hp1
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.739-680_739-679ins
others(100): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGCGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474780
chr21:45474780 G
G
 GGGCGTGG
others(193): Show 
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
C
 12 a0001c0005t0002g0239
a0001c0022t0001g0008
a0001c0022t0001g0021
others(9): Show 
a0001c0005t0002g0239
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 12 HG02109.hp2
HG02273.hp2
HG02451.hp2
others(9): Show 
HG02109.hp2
HG02273.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.739-680_739-679ins
others(200): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGCGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474780
chr21:45474780 G
G
 GGGCGTGG
others(243): Show 
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
C
 119 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(116): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 119 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(116): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.739-680_739-679ins
others(250): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGCGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474780
chr21:45474780 G
G
 GGGCGTGG
others(293): Show 
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
C
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.739-680_739-679ins
others(300): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGCGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474780
chr21:45474780 G
G
 GGGCGTGG
others(243): Show 
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCCTGG
GGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTTGCTCCTGG
C
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.739-680_739-679ins
others(250): Show 
c.739-680_739-679insGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTCGCTCC
TGGGGGCGTGGGCAGGAGACGCCGTGGACGTGGACCCACAGCCTTGCTCC
TGGCGGCGTGGGCAGGAGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 INFO_REALIGN_3_PRIME chr21 45474780
chr21:45474812 T
T
 C
C
 1 a0001c0005t0006g0218
a0001c0005t0006g0218
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.739-664T>C
c.739-664T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474812
chr21:45474980 G
G
 A
A
 3 a0001c0006t0003g0215
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0006t0003g0215
a0001c0037t0001g0062
a0001c0037t0001g0157
 3 HG01192.hp1
HG02970.hp2
HG03195.hp1
HG01192.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.739-496G>A
c.739-496G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45474980
chr21:45475088 C
C
 T
T
 84 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(81): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 84 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(81): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.739-388C>T
c.739-388C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475088
chr21:45475141 C
C
 T
T
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.739-335C>T
c.739-335C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475141
chr21:45475226 G
G
 C
C
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.739-250G>C
c.739-250G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475226
chr21:45475243 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.739-233G>A
c.739-233G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475243
chr21:45475254 C
C
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.739-222C>T
c.739-222C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475254
chr21:45475374 C
C
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.739-102C>A
c.739-102C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475374
chr21:45475417 G
G
 A
A
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.739-59G>A
c.739-59G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 4/41 chr21 45475417
chr21:45475561 C
C
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.798+26C>T
c.798+26C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475561
chr21:45475563 C
C
 T
T
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.798+28C>T
c.798+28C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475563
chr21:45475585 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.798+50C>T
c.798+50C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475585
chr21:45475593 G
G
 A
A
 87 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(84): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 87 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(84): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.798+58G>A
c.798+58G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475593
chr21:45475607 CAT
CAT
 C
C
 44 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(41): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.798+73_798+74delAT
c.798+73_798+74delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475607
chr21:45475697 C
C
 T
T
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.798+162C>T
c.798+162C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475697
chr21:45475701 C
C
 T
T
 1 a0001c0001t0001g0253
a0001c0001t0001g0253
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.798+166C>T
c.798+166C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475701
chr21:45475718 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.798+183C>T
c.798+183C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475718
chr21:45475745 CGT
CGT
 C
C
 86 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(83): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0028c0097t0001g0036
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18995.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.798+213_798+214del
others(2): Show 
c.798+213_798+214delGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 INFO_REALIGN_3_PRIME chr21 45475745
chr21:45475748 G
G
 C
C
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.798+213G>C
c.798+213G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475748
chr21:45475856 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.798+321C>G
c.798+321C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475856
chr21:45475879 G
G
 A
A
 1 a0001c0001t0001g0266
a0001c0001t0001g0266
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.798+344G>A
c.798+344G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475879
chr21:45475938 C
C
 T
T
 1 a0001c0080t0004g0057
a0001c0080t0004g0057
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.798+403C>T
c.798+403C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475938
chr21:45475966 G
G
 A
A
 5 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(2): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0020c0094t0011g0075
 5 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(2): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.799-385G>A
c.799-385G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45475966
chr21:45476003 T
T
 C
C
 32 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(29): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 32 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(29): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.799-348T>C
c.799-348T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476003
chr21:45476011 G
G
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.799-340G>C
c.799-340G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476011
chr21:45476042 G
G
 A
A
 1 a0003c0009t0001g0171
a0003c0009t0001g0171
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.799-309G>A
c.799-309G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476042
chr21:45476053 G
G
 A
A
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.799-298G>A
c.799-298G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476053
chr21:45476090 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-261G>A
c.799-261G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476090
chr21:45476091 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-260G>T
c.799-260G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476091
chr21:45476093 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-258C>A
c.799-258C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476093
chr21:45476094 T
T
 G
G
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-257T>G
c.799-257T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476094
chr21:45476095 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-256G>A
c.799-256G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476095
chr21:45476096 T
T
 C
C
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-255T>C
c.799-255T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476096
chr21:45476097 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-254C>A
c.799-254C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476097
chr21:45476098 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-253G>T
c.799-253G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476098
chr21:45476099 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-252G>A
c.799-252G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476099
chr21:45476101 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-250C>A
c.799-250C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476101
chr21:45476105 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-246G>A
c.799-246G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476105
chr21:45476106 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-245G>T
c.799-245G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476106
chr21:45476109 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-242G>T
c.799-242G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476109
chr21:45476110 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-241G>T
c.799-241G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476110
chr21:45476111 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-240C>A
c.799-240C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476111
chr21:45476112 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-239C>A
c.799-239C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476112
chr21:45476115 T
T
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-236T>A
c.799-236T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476115
chr21:45476116 G
G
 C
C
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-235G>C
c.799-235G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476116
chr21:45476118 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-233G>T
c.799-233G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476118
chr21:45476123 C
C
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-228C>T
c.799-228C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476123
chr21:45476125 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-226G>A
c.799-226G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476125
chr21:45476127 A
A
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-224A>T
c.799-224A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476127
chr21:45476128 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-223G>A
c.799-223G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476128
chr21:45476131 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-220G>A
c.799-220G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476131
chr21:45476132 CGGTCCTG
CGGTCCTG
 C
C
 32 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(29): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 32 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(29): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp1
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.799-209_799-203del
others(7): Show 
c.799-209_799-203delTCCTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 INFO_REALIGN_3_PRIME chr21 45476132
chr21:45476134 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-217G>T
c.799-217G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476134
chr21:45476135 T
T
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-216T>A
c.799-216T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476135
chr21:45476136 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-215C>A
c.799-215C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476136
chr21:45476137 C
C
 G
G
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-214C>G
c.799-214C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476137
chr21:45476143 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-208C>A
c.799-208C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476143
chr21:45476144 C
C
 T
T
 20 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(17): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0020c0094t0011g0075
a0026c0044t0001g0037
 20 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(17): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.799-207C>T
c.799-207C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476144
chr21:45476146 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-205G>A
c.799-205G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476146
chr21:45476147 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-204G>A
c.799-204G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476147
chr21:45476148 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-203G>T
c.799-203G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476148
chr21:45476160 C
C
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-191C>T
c.799-191C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476160
chr21:45476161 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-190C>A
c.799-190C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476161
chr21:45476162 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-189C>A
c.799-189C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476162
chr21:45476165 A
A
 G
G
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-186A>G
c.799-186A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476165
chr21:45476166 G
G
 C
C
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-185G>C
c.799-185G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476166
chr21:45476167 G
G
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-184G>A
c.799-184G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476167
chr21:45476168 C
C
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-183C>T
c.799-183C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476168
chr21:45476170 G
G
 C
C
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.799-181G>C
c.799-181G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476170
chr21:45476170 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-181G>T
c.799-181G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476170
chr21:45476176 C
C
 G
G
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-175C>G
c.799-175C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476176
chr21:45476177 C
C
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-174C>T
c.799-174C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476177
chr21:45476182 C
C
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-169C>T
c.799-169C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476182
chr21:45476183 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-168G>T
c.799-168G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476183
chr21:45476184 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-167G>T
c.799-167G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476184
chr21:45476185 C
C
 A
A
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-166C>A
c.799-166C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476185
chr21:45476186 C
C
 G
G
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-165C>G
c.799-165C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476186
chr21:45476189 C
C
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-162C>T
c.799-162C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476189
chr21:45476190 G
G
 T
T
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.799-161G>T
c.799-161G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476190
chr21:45476261 G
G
 C
C
 2 a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0055t0003g0152
 2 NA18953.hp2
NA19012.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.799-90G>C
c.799-90G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476261
chr21:45476308 T
T
 C
C
 1 a0001c0004t0001g0032
a0001c0004t0001g0032
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.799-43T>C
c.799-43T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 5/41 chr21 45476308
chr21:45476544 T
T
 G
G
 54 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(51): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 54 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.928+64T>G
c.928+64T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476544
chr21:45476575 T
T
 G
G
 49 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(46): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 49 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(46): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.928+95T>G
c.928+95T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476575
chr21:45476687 CAT
CAT
 C
C
 53 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(50): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0224
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0004c0057t0002g0035
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 53 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.928+208_928+209del
others(2): Show 
c.928+208_928+209delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476687
chr21:45476742 A
A
 G
G
 47 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(44): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.928+262A>G
c.928+262A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476742
chr21:45476805 G
G
 A
A
 1 a0006c0028t0003g0059
a0006c0028t0003g0059
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.928+325G>A
c.928+325G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476805
chr21:45476828 T
T
 C
C
 9 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(6): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 9 HG01258.hp2
HG01346.hp2
HG02451.hp2
others(6): Show 
HG01258.hp2
HG01346.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.928+348T>C
c.928+348T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476828
chr21:45476845 TGTGTA
TGTGTA
 T
T
 9 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(6): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 9 HG01258.hp2
HG01346.hp2
HG02451.hp2
others(6): Show 
HG01258.hp2
HG01346.hp2
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.928+370_928+374del
others(5): Show 
c.928+370_928+374delAGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476845
chr21:45476856 C
C
 T
T
 6 a0001c0002t0002g0060
a0001c0013t0002g0122
a0001c0013t0002g0206
others(3): Show 
a0001c0002t0002g0060
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0029c0071t0002g0134
 6 HG00099.hp1
HG00642.hp2
HG01192.hp2
others(3): Show 
HG00099.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG03688.hp1
HG03927.hp2
 intron_variant MODIFIER c.928+376C>T
c.928+376C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476856
chr21:45476921 T
T
 TTG
TTG
 31 a0001c0001t0001g0103
a0001c0001t0001g0128
a0001c0001t0001g0234
others(28): Show 
a0001c0001t0001g0103
a0001c0001t0001g0128
a0001c0001t0001g0234
a0001c0002t0002g0104
a0001c0002t0002g0133
a0001c0002t0002g0178
a0001c0002t0002g0238
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0005c0058t0001g0165
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0021c0086t0002g0176
a0023c0085t0002g0106
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 31 HG00099.hp1
HG00408.hp1
HG00597.hp1
others(28): Show 
HG00099.hp1
HG00408.hp1
HG00597.hp1
HG00639.hp2
HG00642.hp2
HG01070.hp1
HG01081.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01978.hp2
HG02040.hp2
HG02132.hp1
HG02165.hp1
HG02280.hp2
HG02622.hp2
HG02630.hp2
HG03130.hp1
HG03239.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
NA18747.hp1
NA18747.hp2
NA18961.hp1
NA18995.hp2
NA18998.hp2
NA19012.hp2
NA19057.hp1
NA19060.hp2
 intron_variant MODIFIER c.929-461_929-460dup
others(2): Show 
c.929-461_929-460dupTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476921 T
T
 TTGTGTG
TTGTGTG
 12 a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
others(9): Show 
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0018c0095t0001g0146
a0020c0094t0011g0075
a0022c0068t0010g0004
 12 HG00544.hp1
HG02683.hp1
HG02717.hp1
others(9): Show 
HG00544.hp1
HG02683.hp1
HG02717.hp1
HG02895.hp2
NA18944.hp1
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.929-465_929-460dup
others(6): Show 
c.929-465_929-460dupTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476921 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 11 a0003c0009t0001g0054
a0003c0015t0001g0189
a0003c0046t0001g0002
others(8): Show 
a0003c0009t0001g0054
a0003c0015t0001g0189
a0003c0046t0001g0002
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0024c0066t0010g0066
a0026c0044t0001g0037
 11 HG00733.hp2
HG02258.hp2
HG02559.hp1
others(8): Show 
HG00733.hp2
HG02258.hp2
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02717.hp2
HG02895.hp1
HG02922.hp2
NA18964.hp2
NA19007.hp2
NA19240.hp2
 intron_variant MODIFIER c.928+464_929-460dup
others(8): Show 
c.928+464_929-460dupTGTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476921 T
T
 TTGTGTGT
others(3): Show 
TTGTGTGTGTG
 1 a0003c0010t0006g0014
a0003c0010t0006g0014
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.928+462_929-460dup
others(10): Show 
c.928+462_929-460dupTGTGTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476921 T
T
 TTGTGTGT
others(5): Show 
TTGTGTGTGTGTG
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.928+460_929-460dup
others(12): Show 
c.928+460_929-460dupTGTGTGTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476921 TTG
TTG
 T
T
 73 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0003t0001g0110
others(70): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0033t0002g0100
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0007c0076t0002g0281
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0025c0050t0002g0108
a0028c0097t0001g0036
a0031c0092t0011g0190
 73 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(70): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01070.hp2
HG01123.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.929-461_929-460del
others(2): Show 
c.929-461_929-460delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476921 TTGTGTG
TTGTGTG
 T
T
 7 a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
others(4): Show 
a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0032t0001g0147
 7 HG01891.hp1
HG02135.hp1
HG02155.hp2
others(4): Show 
HG01891.hp1
HG02135.hp1
HG02155.hp2
HG02723.hp1
NA18977.hp2
NA19010.hp1
NA20129.hp1
 intron_variant MODIFIER c.929-465_929-460del
others(6): Show 
c.929-465_929-460delTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476921
chr21:45476923 G
G
 T
T
 47 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(44): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01261.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02486.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19043.hp2
NA19064.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.928+443G>T
c.928+443G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476923
chr21:45476925 G
G
 T
T
 8 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(5): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0063t0001g0144
a0001c0082t0008g0053
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG01167.hp2
HG02647.hp1
HG02809.hp1
others(5): Show 
HG01167.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG06807.hp1
NA18522.hp2
 intron_variant MODIFIER c.928+445G>T
c.928+445G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476925
chr21:45476927 G
G
 T
T
 1 a0001c0011t0001g0050
a0001c0011t0001g0050
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.928+447G>T
c.928+447G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476927
chr21:45476929 G
G
 T
T
 3 a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
 3 HG02135.hp1
HG02155.hp2
NA19010.hp1
HG02135.hp1
HG02155.hp2
NA19010.hp1
 intron_variant MODIFIER c.928+449G>T
c.928+449G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476929
chr21:45476936 T
T
 C
C
 12 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(9): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
a0027c0070t0001g0012
 12 HG01258.hp2
HG01346.hp2
HG02257.hp1
others(9): Show 
HG01258.hp2
HG01346.hp2
HG02257.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02970.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.928+456T>C
c.928+456T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476936
chr21:45476950 T
T
 A
A
 12 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(9): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
a0027c0070t0001g0012
 12 HG01258.hp2
HG01346.hp2
HG02257.hp1
others(9): Show 
HG01258.hp2
HG01346.hp2
HG02257.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02970.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.929-461T>A
c.929-461T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476950
chr21:45476950 T
T
 G
G
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.929-461T>G
c.929-461T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45476950
chr21:45476982 TGGCTCTG
others(6): Show 
TGGCTCTGGGTACA
 T
T
 5 a0003c0009t0001g0171
a0003c0015t0001g0168
a0003c0015t0001g0189
others(2): Show 
a0003c0009t0001g0171
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
 5 NA18964.hp2
NA18969.hp1
NA18975.hp1
others(2): Show 
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
 intron_variant MODIFIER c.929-418_929-406del
others(13): Show 
c.929-418_929-406delACAGGCTCTGGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 INFO_REALIGN_3_PRIME chr21 45476982
chr21:45477044 C
C
 T
T
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.929-367C>T
c.929-367C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477044
chr21:45477151 G
G
 A
A
 1 a0001c0003t0001g0287
a0001c0003t0001g0287
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.929-260G>A
c.929-260G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477151
chr21:45477165 A
A
 G
G
 135 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(132): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 135 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(132): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.929-246A>G
c.929-246A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477165
chr21:45477166 C
C
 T
T
 135 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(132): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 135 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(132): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.929-245C>T
c.929-245C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477166
chr21:45477179 T
T
 C
C
 75 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(72): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0099t0003g0030
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 75 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(72): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.929-232T>C
c.929-232T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477179
chr21:45477300 C
C
 T
T
 26 a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
others(23): Show 
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0016c0042t0001g0118
a0032c0052t0002g0077
 26 HG00140.hp2
HG00280.hp1
HG00438.hp1
others(23): Show 
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02818.hp1
HG03017.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18961.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
 intron_variant MODIFIER c.929-111C>T
c.929-111C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477300
chr21:45477305 T
T
 C
C
 1 a0002c0020t0001g0010
a0002c0020t0001g0010
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.929-106T>C
c.929-106T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477305
chr21:45477307 C
C
 T
T
 57 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(54): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(54): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.929-104C>T
c.929-104C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477307
chr21:45477339 T
T
 C
C
 57 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(54): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 57 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(54): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.929-72T>C
c.929-72T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 6/41 chr21 45477339
chr21:45477494 C
C
 G
G
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 splice_region_variant&intron_variant LOW c.1005+7C>G
c.1005+7C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 7/41 chr21 45477494
chr21:45477500 C
C
 G
G
 1 a0001c0003t0001g0249
a0001c0003t0001g0249
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.1005+13C>G
c.1005+13C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 7/41 chr21 45477500
chr21:45477709 G
G
 A
A
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1006-41G>A
c.1006-41G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 7/41 chr21 45477709
chr21:45477979 T
T
 C
C
 8 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(5): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
a0028c0097t0001g0036
 8 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(5): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.1221+14T>C
c.1221+14T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/41 chr21 45477979
chr21:45478043 G
G
 A
A
 1 a0021c0086t0002g0176
a0021c0086t0002g0176
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1221+78G>A
c.1221+78G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/41 chr21 45478043
chr21:45478070 G
G
 A
A
 1 a0001c0004t0001g0013
a0001c0004t0001g0013
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.1221+105G>A
c.1221+105G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/41 chr21 45478070
chr21:45478260 T
T
 C
C
 73 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(70): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0225
a0001c0005t0002g0224
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0037c0049t0004g0183
 73 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(70): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp1
HG03579.hp2
HG03654.hp1
HG03831.hp2
HG03942.hp2
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1222-67T>C
c.1222-67T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 8/41 chr21 45478260
chr21:45478640 G
G
 T
T
 3 a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
 3 HG01943.hp1
HG01993.hp2
HG02004.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
 intron_variant MODIFIER c.1248+287G>T
c.1248+287G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478640
chr21:45478659 G
G
 C
C
 1 a0007c0034t0001g0141
a0007c0034t0001g0141
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.1248+306G>C
c.1248+306G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478659
chr21:45478670 G
G
 C
C
 15 a0001c0004t0001g0213
a0002c0012t0004g0040
a0002c0012t0004g0049
others(12): Show 
a0001c0004t0001g0213
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0012c0065t0002g0096
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0028c0097t0001g0036
 15 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(12): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.1248+317G>C
c.1248+317G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478670
chr21:45478681 C
C
 T
T
 1 a0001c0004t0001g0032
a0001c0004t0001g0032
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.1248+328C>T
c.1248+328C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478681
chr21:45478683 G
G
 C
C
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1248+330G>C
c.1248+330G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478683
chr21:45478701 C
C
 T
T
 14 a0001c0041t0001g0155
a0002c0020t0001g0010
a0002c0020t0001g0011
others(11): Show 
a0001c0041t0001g0155
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0100t0001g0039
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 14 HG01074.hp2
HG01081.hp1
HG01891.hp2
others(11): Show 
HG01074.hp2
HG01081.hp1
HG01891.hp2
HG02145.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03225.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.1248+348C>T
c.1248+348C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478701
chr21:45478730 C
C
 A
A
 2 a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0111
a0001c0002t0002g0137
 2 HG02155.hp1
NA18995.hp1
HG02155.hp1
NA18995.hp1
 intron_variant MODIFIER c.1248+377C>A
c.1248+377C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478730
chr21:45478952 G
G
 A
A
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1248+599G>A
c.1248+599G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478952
chr21:45478996 T
T
 C
C
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1248+643T>C
c.1248+643T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45478996
chr21:45479072 C
C
 T
T
 12 a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0003t0003g0264
others(9): Show 
a0001c0003t0001g0005
a0001c0003t0001g0193
a0001c0003t0003g0264
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0013c0051t0001g0195
a0036c0048t0004g0184
a0037c0049t0004g0183
 12 HG01167.hp2
HG02055.hp1
HG02055.hp2
others(9): Show 
HG01167.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02257.hp2
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03195.hp2
NA18522.hp2
NA18969.hp2
 intron_variant MODIFIER c.1248+719C>T
c.1248+719C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479072
chr21:45479076 C
C
 CGCGT
CGCGT
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1248+725_1248+728d
others(6): Show 
c.1248+725_1248+728dupCGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479076
chr21:45479078 C
C
 CGTGT
CGTGT
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1248+727_1248+730d
others(6): Show 
c.1248+727_1248+730dupTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479078
chr21:45479146 ATG
ATG
 A
A
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-752_1249-751d
others(4): Show 
c.1249-752_1249-751delGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479146
chr21:45479172 CTG
CTG
 C
C
 56 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(53): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 56 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(53): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1249-729_1249-728d
others(4): Show 
c.1249-729_1249-728delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479172
chr21:45479178 G
G
 A
A
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1249-724G>A
c.1249-724G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479178
chr21:45479184 GT
GT
 G
G
 16 a0001c0004t0001g0271
a0001c0005t0002g0280
a0002c0012t0004g0040
others(13): Show 
a0001c0004t0001g0271
a0001c0005t0002g0280
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0005c0036t0001g0292
a0012c0065t0002g0096
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 16 HG00423.hp1
HG00639.hp2
HG01167.hp1
others(13): Show 
HG00423.hp1
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
NA18977.hp1
NA19240.hp2
 intron_variant MODIFIER c.1249-717delT
c.1249-717delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479184
chr21:45479185 T
T
 G
G
 44 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(41): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0004c0091t0001g0056
a0005c0036t0001g0245
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 44 HG00438.hp2
HG00544.hp2
HG00609.hp1
others(41): Show 
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02735.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.1249-717T>G
c.1249-717T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479185
chr21:45479185 TG
TG
 T
T
 28 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(25): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 28 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(25): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249-710delG
c.1249-710delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479185
chr21:45479185 TGG
TGG
 T
T
 43 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(40): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 43 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(40): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-711_1249-710d
others(4): Show 
c.1249-711_1249-710delGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479185
chr21:45479205 C
C
 T
T
 43 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(40): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 43 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(40): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-697C>T
c.1249-697C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479205
chr21:45479239 T
T
 C
C
 1 a0002c0021t0002g0186
a0002c0021t0002g0186
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1249-663T>C
c.1249-663T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479239
chr21:45479240 CACACACC
others(7): Show 
CACACACCACACATT
 C
C
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1249-650_1249-637d
others(16): Show 
c.1249-650_1249-637delATTACACACCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479240
chr21:45479265 C
C
 T
T
 1 a0001c0017t0003g0205
a0001c0017t0003g0205
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1249-637C>T
c.1249-637C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479265
chr21:45479292 CAT
CAT
 C
C
 51 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(48): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0112
a0001c0005t0002g0280
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0002c0084t0002g0212
a0005c0036t0001g0292
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 51 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(48): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-609_1249-608d
others(4): Show 
c.1249-609_1249-608delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479292
chr21:45479363 GCA
GCA
 G
G
 60 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(57): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 60 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(57): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1249-531_1249-530d
others(4): Show 
c.1249-531_1249-530delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479363
chr21:45479365 A
A
 G
G
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-537A>G
c.1249-537A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479365
chr21:45479403 G
G
 A
A
 1 a0001c0007t0002g0208
a0001c0007t0002g0208
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1249-499G>A
c.1249-499G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479403
chr21:45479415 A
A
 G
G
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1249-487A>G
c.1249-487A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479415
chr21:45479422 G
G
 A
A
 7 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
others(4): Show 
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
 7 HG01891.hp1
HG02109.hp1
HG02723.hp1
others(4): Show 
HG01891.hp1
HG02109.hp1
HG02723.hp1
HG02970.hp1
HG03471.hp1
HG03540.hp1
NA20129.hp1
 intron_variant MODIFIER c.1249-480G>A
c.1249-480G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479422
chr21:45479528 C
C
 T
T
 21 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(18): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249-374C>T
c.1249-374C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479528
chr21:45479529 A
A
 G
G
 41 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(38): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 41 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(38): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249-373A>G
c.1249-373A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479529
chr21:45479536 C
C
 T
T
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-366C>T
c.1249-366C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479536
chr21:45479557 TCACACAT
others(3): Show 
TCACACATGTA
 T
T
 56 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(53): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 56 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(53): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1249-339_1249-330d
others(12): Show 
c.1249-339_1249-330delATGTACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479557
chr21:45479577 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1249-325C>T
c.1249-325C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479577
chr21:45479581 T
T
 TCA
TCA
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1249-311_1249-310d
others(4): Show 
c.1249-311_1249-310dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479581
chr21:45479600 A
A
 ACC
ACC
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1249-301_1249-300d
others(4): Show 
c.1249-301_1249-300dupCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479600
chr21:45479601 C
C
 CCA
CCA
 7 a0001c0005t0002g0070
a0001c0022t0001g0008
a0001c0022t0001g0021
others(4): Show 
a0001c0005t0002g0070
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0008c0101t0005g0027
 7 HG02071.hp1
HG02970.hp2
HG03195.hp1
others(4): Show 
HG02071.hp1
HG02970.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1249-286_1249-285d
others(4): Show 
c.1249-286_1249-285dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 INFO_REALIGN_3_PRIME chr21 45479601
chr21:45479616 CAT
CAT
 C
C
 51 a0001c0002t0002g0094
a0001c0003t0001g0005
a0001c0003t0001g0043
others(48): Show 
a0001c0002t0002g0094
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0004c0023t0002g0138
a0004c0023t0002g0163
a0006c0026t0001g0083
a0006c0026t0003g0219
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 51 HG00099.hp2
HG00140.hp2
HG00423.hp2
others(48): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01891.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03225.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-285_1249-284d
others(4): Show 
c.1249-285_1249-284delAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479616
chr21:45479618 T
T
 C
C
 48 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(45): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
 48 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(45): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249-284T>C
c.1249-284T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479618
chr21:45479625 A
A
 T
T
 13 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(10): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0012c0065t0002g0096
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 13 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(10): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.1249-277A>T
c.1249-277A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479625
chr21:45479685 A
A
 G
G
 5 a0001c0001t0001g0103
a0001c0001t0001g0234
a0001c0002t0002g0133
others(2): Show 
a0001c0001t0001g0103
a0001c0001t0001g0234
a0001c0002t0002g0133
a0001c0002t0006g0233
a0005c0058t0001g0165
 5 HG02040.hp2
HG02165.hp1
NA18995.hp2
others(2): Show 
HG02040.hp2
HG02165.hp1
NA18995.hp2
NA19012.hp2
NA19057.hp1
 intron_variant MODIFIER c.1249-217A>G
c.1249-217A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479685
chr21:45479758 G
G
 A
A
 60 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(57): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0028c0097t0001g0036
a0031c0092t0011g0190
 60 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(57): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1249-144G>A
c.1249-144G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479758
chr21:45479764 G
G
 C
C
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1249-138G>C
c.1249-138G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479764
chr21:45479782 A
A
 C
C
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1249-120A>C
c.1249-120A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479782
chr21:45479809 T
T
 C
C
 41 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(38): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 41 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(38): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1249-93T>C
c.1249-93T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479809
chr21:45479823 G
G
 C
C
 1 a0003c0009t0001g0247
a0003c0009t0001g0247
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.1249-79G>C
c.1249-79G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479823
chr21:45479869 T
T
 C
C
 7 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(4): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0008c0101t0005g0027
 7 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(4): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1249-33T>C
c.1249-33T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 9/41 chr21 45479869
chr21:45480033 G
G
 A
A
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1312-37G>A
c.1312-37G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 10/41 chr21 45480033
chr21:45480039 A
A
 G
G
 28 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(25): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 28 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(25): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1312-31A>G
c.1312-31A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 10/41 chr21 45480039
chr21:45480163 C
C
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 splice_region_variant&intron_variant LOW c.1398+7C>G
c.1398+7C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480163
chr21:45480181 C
C
 T
T
 1 a0001c0002t0017g0216
a0001c0002t0017g0216
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1398+25C>T
c.1398+25C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480181
chr21:45480186 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1398+30C>T
c.1398+30C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480186
chr21:45480194 G
G
 A
A
 1 a0033c0077t0003g0098
a0033c0077t0003g0098
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.1398+38G>A
c.1398+38G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480194
chr21:45480300 G
G
 A
A
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398+144G>A
c.1398+144G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480300
chr21:45480335 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1399-132C>T
c.1399-132C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480335
chr21:45480418 G
G
 C
C
 41 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(38): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 41 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(38): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1399-49G>C
c.1399-49G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480418
chr21:45480419 C
C
 G
G
 41 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(38): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 41 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(38): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1399-48C>G
c.1399-48C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480419
chr21:45480420 G
G
 C
C
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1399-47G>C
c.1399-47G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480420
chr21:45480442 G
G
 C
C
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.1399-25G>C
c.1399-25G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 11/41 chr21 45480442
chr21:45480626 C
C
 T
T
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.1453-74C>T
c.1453-74C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 12/41 chr21 45480626
chr21:45480629 G
G
 A
A
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1453-71G>A
c.1453-71G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 12/41 chr21 45480629
chr21:45480632 C
C
 T
T
 93 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(90): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 93 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(90): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1453-68C>T
c.1453-68C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 12/41 chr21 45480632
chr21:45480942 C
C
 T
T
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1611+84C>T
c.1611+84C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45480942
chr21:45480964 C
C
 T
T
 6 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
 6 HG01261.hp2
HG02486.hp2
HG03130.hp2
others(3): Show 
HG01261.hp2
HG02486.hp2
HG03130.hp2
HG03453.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.1611+106C>T
c.1611+106C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45480964
chr21:45480975 C
C
 G
G
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.1611+117C>G
c.1611+117C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45480975
chr21:45481019 A
A
 G
G
 94 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(91): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 94 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(91): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1611+161A>G
c.1611+161A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481019
chr21:45481045 G
G
 A
A
 1 a0002c0021t0002g0148
a0002c0021t0002g0148
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1611+187G>A
c.1611+187G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481045
chr21:45481089 C
C
 T
T
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1611+231C>T
c.1611+231C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481089
chr21:45481146 G
G
 A
A
 45 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(42): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
 45 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(42): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1611+288G>A
c.1611+288G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481146
chr21:45481236 C
C
 A
A
 45 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(42): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
 45 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(42): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1611+378C>A
c.1611+378C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481236
chr21:45481247 G
G
 A
A
 1 a0001c0004t0001g0225
a0001c0004t0001g0225
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1611+389G>A
c.1611+389G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481247
chr21:45481371 C
C
 T
T
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1611+513C>T
c.1611+513C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481371
chr21:45481372 T
T
 G
G
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1611+514T>G
c.1611+514T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481372
chr21:45481511 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1612-452C>T
c.1612-452C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481511
chr21:45481545 C
C
 T
T
 12 a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
others(9): Show 
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 12 HG00099.hp1
HG00597.hp1
HG00642.hp1
others(9): Show 
HG00099.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG02132.hp1
HG03927.hp2
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
 intron_variant MODIFIER c.1612-418C>T
c.1612-418C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481545
chr21:45481553 A
A
 G
G
 91 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(88): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 91 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1612-410A>G
c.1612-410A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481553
chr21:45481554 T
T
 C
C
 21 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(18): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1612-409T>C
c.1612-409T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481554
chr21:45481556 C
C
 T
T
 1 a0003c0009t0001g0054
a0003c0009t0001g0054
 1 NA19007.hp2
NA19007.hp2
 intron_variant MODIFIER c.1612-407C>T
c.1612-407C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481556
chr21:45481557 A
A
 G
G
 153 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(150): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 153 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(150): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1612-406A>G
c.1612-406A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481557
chr21:45481613 A
A
 G
G
 289 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(286): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 289 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(286): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1612-350A>G
c.1612-350A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481613
chr21:45481665 C
C
 T
T
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1612-298C>T
c.1612-298C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481665
chr21:45481682 C
C
 T
T
 1 a0001c0022t0001g0008
a0001c0022t0001g0008
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1612-281C>T
c.1612-281C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481682
chr21:45481815 G
G
 A
A
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1612-148G>A
c.1612-148G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 13/41 chr21 45481815
chr21:45482059 A
A
 C
C
 59 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(56): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0012c0088t0002g0006
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 59 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(56): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19043.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1674+34A>C
c.1674+34A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482059
chr21:45482103 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1674+78C>T
c.1674+78C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482103
chr21:45482149 A
A
 G
G
 5 a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
others(2): Show 
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0016g0051
a0004c0091t0001g0056
 5 HG02451.hp1
HG02486.hp1
HG02615.hp2
others(2): Show 
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.1674+124A>G
c.1674+124A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482149
chr21:45482245 G
G
 A
A
 6 a0001c0069t0005g0038
a0001c0098t0001g0007
a0008c0018t0005g0067
others(3): Show 
a0001c0069t0005g0038
a0001c0098t0001g0007
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 6 HG02109.hp2
HG02257.hp1
HG02451.hp2
others(3): Show 
HG02109.hp2
HG02257.hp1
HG02451.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1674+220G>A
c.1674+220G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482245
chr21:45482256 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1674+231A>G
c.1674+231A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482256
chr21:45482266 T
T
 C
C
 94 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(91): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 94 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(91): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1674+241T>C
c.1674+241T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482266
chr21:45482269 G
G
 A
A
 6 a0001c0069t0005g0038
a0001c0098t0001g0007
a0008c0018t0005g0067
others(3): Show 
a0001c0069t0005g0038
a0001c0098t0001g0007
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 6 HG02109.hp2
HG02257.hp1
HG02451.hp2
others(3): Show 
HG02109.hp2
HG02257.hp1
HG02451.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1674+244G>A
c.1674+244G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482269
chr21:45482299 G
G
 A
A
 3 a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
 3 NA18953.hp1
NA18966.hp2
NA19074.hp1
NA18953.hp1
NA18966.hp2
NA19074.hp1
 intron_variant MODIFIER c.1674+274G>A
c.1674+274G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482299
chr21:45482307 C
C
 T
T
 3 a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
a0001c0041t0001g0155
a0004c0023t0002g0138
a0004c0023t0002g0163
 3 HG01891.hp2
HG02145.hp1
HG03225.hp1
HG01891.hp2
HG02145.hp1
HG03225.hp1
 intron_variant MODIFIER c.1674+282C>T
c.1674+282C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482307
chr21:45482324 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1674+299G>A
c.1674+299G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482324
chr21:45482359 A
A
 G
G
 153 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(150): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 153 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(150): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1674+334A>G
c.1674+334A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482359
chr21:45482466 G
G
 A
A
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1675-329G>A
c.1675-329G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482466
chr21:45482476 G
G
 A
A
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1675-319G>A
c.1675-319G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482476
chr21:45482521 C
C
 A
A
 12 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(9): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 12 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(9): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.1675-274C>A
c.1675-274C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482521
chr21:45482668 T
T
 C
C
 2 a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0035t0001g0072
a0001c0035t0001g0073
 2 NA19005.hp2
NA19057.hp2
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.1675-127T>C
c.1675-127T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482668
chr21:45482789 G
G
 A
A
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 splice_region_variant&intron_variant LOW c.1675-6G>A
c.1675-6G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 14/41 chr21 45482789
chr21:45482911 G
G
 A
A
 1 a0030c0056t0001g0044
a0030c0056t0001g0044
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1701+90G>A
c.1701+90G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45482911
chr21:45483068 C
C
 T
T
 1 a0001c0003t0001g0289
a0001c0003t0001g0289
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1701+247C>T
c.1701+247C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483068
chr21:45483107 A
A
 G
G
 52 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(49): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 52 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(49): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+286A>G
c.1701+286A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483107
chr21:45483124 G
G
 A
A
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1701+303G>A
c.1701+303G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483124
chr21:45483137 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1701+316G>A
c.1701+316G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483137
chr21:45483171 C
C
 A
A
 4 a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
others(1): Show 
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
 4 NA18964.hp2
NA18975.hp1
NA18983.hp1
others(1): Show 
NA18964.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
 intron_variant MODIFIER c.1701+350C>A
c.1701+350C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483171
chr21:45483243 C
C
 T
T
 2 a0022c0068t0010g0004
a0024c0066t0010g0066
a0022c0068t0010g0004
a0024c0066t0010g0066
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.1701+422C>T
c.1701+422C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483243
chr21:45483254 C
C
 A
A
 1 a0001c0004t0001g0255
a0001c0004t0001g0255
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1701+433C>A
c.1701+433C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483254
chr21:45483270 G
G
 A
A
 13 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(10): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
 13 HG00544.hp1
HG02683.hp1
HG04228.hp1
others(10): Show 
HG00544.hp1
HG02683.hp1
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.1701+449G>A
c.1701+449G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483270
chr21:45483298 G
G
 A
A
 1 a0001c0002t0002g0060
a0001c0002t0002g0060
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1701+477G>A
c.1701+477G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483298
chr21:45483306 C
C
 T
T
 1 a0007c0031t0002g0123
a0007c0031t0002g0123
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.1701+485C>T
c.1701+485C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483306
chr21:45483376 G
G
 A
A
 91 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(88): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 91 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+555G>A
c.1701+555G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483376
chr21:45483469 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1701+648C>G
c.1701+648C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483469
chr21:45483498 C
C
 T
T
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+677C>T
c.1701+677C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483498
chr21:45483570 G
G
 A
A
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+749G>A
c.1701+749G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483570
chr21:45483589 C
C
 G
G
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1701+768C>G
c.1701+768C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483589
chr21:45483645 C
C
 T
T
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1701+824C>T
c.1701+824C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483645
chr21:45483680 T
T
 TG
TG
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+861dupG
c.1701+861dupG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483680
chr21:45483704 G
G
 A
A
 1 a0001c0035t0001g0073
a0001c0035t0001g0073
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.1701+883G>A
c.1701+883G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483704
chr21:45483769 G
G
 A
A
 12 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(9): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 12 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(9): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.1701+948G>A
c.1701+948G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483769
chr21:45483824 A
A
 G
G
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1003A>G
c.1701+1003A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483824
chr21:45483865 TACAC
TACAC
 T
T
 4 a0001c0019t0003g0170
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0001c0019t0003g0170
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
NA20129.hp1
 intron_variant MODIFIER c.1701+1053_1701+105
others(8): Show 
c.1701+1053_1701+1056delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483865
chr21:45483866 A
A
 ACACACAC
others(26): Show 
ACACACACACACCTCTCCAGCATATGTACACATG
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1701+1088_1701+112
others(37): Show 
c.1701+1088_1701+1120dupACCTCTCCAGCATATGTACACATGCA
CACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483866
chr21:45483867 C
C
 T
T
 51 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(48): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 51 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(48): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1046C>T
c.1701+1046C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45483867
chr21:45483932 G
G
 GCACACAC
others(26): Show 
GCACACACACCTCTCCAGCATATGTACACATGCA
 10 a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0083t0001g0237
others(7): Show 
a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0046t0001g0002
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 10 HG00639.hp2
HG00733.hp2
HG01167.hp1
others(7): Show 
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02280.hp2
HG02895.hp2
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.1701+1152_1701+118
others(37): Show 
c.1701+1152_1701+1184dupACCTCTCCAGCATATGTACACATGCA
CACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483932
chr21:45483996 G
G
 GCA
GCA
 37 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(34): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 37 HG00544.hp1
HG01258.hp2
HG01346.hp2
others(34): Show 
HG00544.hp1
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1183_1701+118
others(6): Show 
c.1701+1183_1701+1184dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483996
chr21:45483998 A
A
 ACACACAC
others(24): Show 
ACACACACACCTCTCCAGCATATGTACACATG
 43 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(40): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 43 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(40): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.1701+1184_1701+118
others(35): Show 
c.1701+1184_1701+1185insACCTCTCCAGCATATGTACACATGCA
CACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483998
chr21:45483998 A
A
 ACACACAC
others(22): Show 
ACACACACCTCTCCAGCATATGTACACATG
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1701+1185_1701+121
others(33): Show 
c.1701+1185_1701+1213dupCTCTCCAGCATATGTACACATGCACA
CAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483998
chr21:45483998 A
A
 ACACACCT
others(20): Show 
ACACACCTCTCCAGCATATGTACACATG
 1 a0006c0026t0003g0219
a0006c0026t0003g0219
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1182_1701+118
others(31): Show 
c.1701+1182_1701+1183insCTCTCCAGCATATGTACACATGCACA
C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45483998
chr21:45484027 G
G
 GCACACAC
others(22): Show 
GCACACACACACCTCTCCAGCATATGTACA
 14 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(11): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0063t0001g0144
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0060t0001g0063
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0030c0056t0001g0044
 14 HG01243.hp1
HG02145.hp2
HG02258.hp1
others(11): Show 
HG01243.hp1
HG02145.hp2
HG02258.hp1
HG02559.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03209.hp1
HG03486.hp2
HG06807.hp1
 intron_variant MODIFIER c.1701+1218_1701+124
others(33): Show 
c.1701+1218_1701+1246dupCTCTCCAGCATATGTACACACACACA
CAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484027
chr21:45484027 G
G
 GCACACAC
others(51): Show 
GCACACACACCTCTCCAGCATATGTACACATGCACACACACACCTCTCCA
GCATATGTA
 26 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0038t0004g0028
others(23): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 26 HG00544.hp1
HG02258.hp2
HG02280.hp1
others(23): Show 
HG00544.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1215_1701+121
others(62): Show 
c.1701+1215_1701+1216insCTCTCCAGCATATGTACACATGCACA
CACACACCTCTCCAGCATATGTACACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484027
chr21:45484027 GCA
GCA
 G
G
 4 a0001c0022t0001g0131
a0002c0012t0004g0040
a0002c0012t0004g0049
others(1): Show 
a0001c0022t0001g0131
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
 4 HG02622.hp2
HG02886.hp2
HG03486.hp1
others(1): Show 
HG02622.hp2
HG02886.hp2
HG03486.hp1
NA18906.hp2
 intron_variant MODIFIER c.1701+1216_1701+121
others(6): Show 
c.1701+1216_1701+1217delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484027
chr21:45484027 GCACA
GCACA
 G
G
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1701+1214_1701+121
others(8): Show 
c.1701+1214_1701+1217delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484027
chr21:45484032 C
C
 CACCTCTC
others(22): Show 
CACCTCTCCAGCATATGTACACATGCACAT
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1701+1213_1701+121
others(33): Show 
c.1701+1213_1701+1214insCTCTCCAGCATATGTACACATGCACA
TAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484032
chr21:45484032 C
C
 T
T
 44 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(41): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1211C>T
c.1701+1211C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484032
chr21:45484053 TAC
TAC
 T
T
 36 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0038t0004g0028
others(33): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 36 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(33): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1245_1701+124
others(6): Show 
c.1701+1245_1701+1246delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484053
chr21:45484056 A
A
 ACATG
ACATG
 8 a0001c0022t0001g0131
a0001c0069t0005g0038
a0002c0012t0004g0040
others(5): Show 
a0001c0022t0001g0131
a0001c0069t0005g0038
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 8 HG02109.hp2
HG02622.hp2
HG02630.hp2
others(5): Show 
HG02109.hp2
HG02622.hp2
HG02630.hp2
HG02886.hp2
HG03130.hp1
HG03486.hp1
HG03579.hp1
NA18906.hp2
 intron_variant MODIFIER c.1701+1237_1701+123
others(8): Show 
c.1701+1237_1701+1238insTGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484056
chr21:45484068 T
T
 C
C
 167 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(164): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 167 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(164): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1247T>C
c.1701+1247T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484068
chr21:45484082 T
T
 TAC
TAC
 52 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0003t0001g0005
others(49): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0004c0057t0002g0035
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 52 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(49): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1272_1701+127
others(6): Show 
c.1701+1272_1701+1273dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484082
chr21:45484086 C
C
 CACACACA
others(16): Show 
CACACACACCTCTCCAGCATATGT
 3 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
 3 HG02622.hp2
HG02886.hp2
HG03486.hp1
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.1701+1266_1701+128
others(27): Show 
c.1701+1266_1701+1288dupACACACACCTCTCCAGCATATGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484086
chr21:45484087 ACACACAC
others(22): Show 
ACACACACCTCTCCAGCATATGTGCACACG
 A
A
 56 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(53): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 56 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(53): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1701+1274_1701+130
others(33): Show 
c.1701+1274_1701+1302delCTCTCCAGCATATGTGCACACGCACA
CAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484087
chr21:45484109 TGC
TGC
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1701+1289_1701+129
others(6): Show 
c.1701+1289_1701+1290delGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484109
chr21:45484109 TGCAC
TGCAC
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1289_1701+129
others(8): Show 
c.1701+1289_1701+1292delGCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484109
chr21:45484116 G
G
 A
A
 7 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0069t0005g0038
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0069t0005g0038
a0004c0057t0002g0035
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 7 HG02109.hp2
HG02559.hp2
HG02630.hp2
others(4): Show 
HG02109.hp2
HG02559.hp2
HG02630.hp2
HG03098.hp2
HG03130.hp1
HG03579.hp1
HG06807.hp2
 intron_variant MODIFIER c.1701+1295G>A
c.1701+1295G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484116
chr21:45484134 C
C
 T
T
 4 a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(1): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG03098.hp1
 intron_variant MODIFIER c.1701+1313C>T
c.1701+1313C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484134
chr21:45484135 G
G
 A
A
 59 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0004t0001g0013
others(56): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 59 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(56): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1701+1314G>A
c.1701+1314G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484135
chr21:45484138 T
T
 C
C
 28 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(25): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 28 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(25): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1317T>C
c.1701+1317T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484138
chr21:45484140 T
T
 TAC
TAC
 56 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(53): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0088t0002g0006
a0028c0097t0001g0036
a0031c0092t0011g0190
 56 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(53): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1701+1328_1701+132
others(6): Show 
c.1701+1328_1701+1329dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484140
chr21:45484140 T
T
 TGCACAC
TGCACAC
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1319_1701+132
others(10): Show 
c.1701+1319_1701+1320insGCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484140
chr21:45484141 A
A
 G
G
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1320A>G
c.1701+1320A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484141
chr21:45484160 A
A
 G
G
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1339A>G
c.1701+1339A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484160
chr21:45484168 A
A
 G
G
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1347A>G
c.1701+1347A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484168
chr21:45484168 ACGCG
ACGCG
 A
A
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1349_1701+135
others(8): Show 
c.1701+1349_1701+1352delGCGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484168
chr21:45484171 C
C
 T
T
 1 a0001c0004t0001g0090
a0001c0004t0001g0090
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1701+1350C>T
c.1701+1350C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484171
chr21:45484194 T
T
 TGC
TGC
 28 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(25): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 28 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(25): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1374_1701+137
others(6): Show 
c.1701+1374_1701+1375dupGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484194
chr21:45484195 G
G
 A
A
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1374G>A
c.1701+1374G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484195
chr21:45484195 G
G
 GCA
GCA
 66 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(63): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 66 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(63): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1383_1701+138
others(6): Show 
c.1701+1383_1701+1384dupCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484195
chr21:45484198 CACACACA
others(26): Show 
CACACACATAGGCACACACATCTCCAGCATATGT
 C
C
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1378_1701+141
others(37): Show 
c.1701+1378_1701+1410delACACACATAGGCACACACATCTCCAG
CATATGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484198
chr21:45484217 ATCTCCAG
others(18): Show 
ATCTCCAGCATATGTGCACACACACC
 A
A
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1701+1421_1701+144
others(29): Show 
c.1701+1421_1701+1445delCTCTCCAGCATATGTGCACACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484217
chr21:45484228 A
A
 C
C
 1 a0001c0002t0001g0024
a0001c0002t0001g0024
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1701+1407A>C
c.1701+1407A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484228
chr21:45484233 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0027c0070t0001g0012
 5 HG02109.hp2
HG02257.hp1
HG02630.hp2
others(2): Show 
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1701+1412C>T
c.1701+1412C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484233
chr21:45484234 A
A
 G
G
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1413A>G
c.1701+1413A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484234
chr21:45484240 A
A
 C
C
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.1701+1419A>C
c.1701+1419A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484240
chr21:45484241 C
C
 T
T
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.1701+1420C>T
c.1701+1420C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484241
chr21:45484257 GCA
GCA
 G
G
 3 a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
a0001c0001t0001g0033
a0001c0001t0001g0192
a0004c0057t0002g0035
 3 HG02559.hp2
HG03098.hp2
HG06807.hp2
HG02559.hp2
HG03098.hp2
HG06807.hp2
 intron_variant MODIFIER c.1701+1447_1701+144
others(6): Show 
c.1701+1447_1701+1448delCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484257
chr21:45484296 GCA
GCA
 G
G
 44 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(41): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1485_1701+148
others(6): Show 
c.1701+1485_1701+1486delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484296
chr21:45484298 A
A
 ACACACAC
others(55): Show 
ACACACACCTCTCCAGCATATGTGCACACACACACATAGGCACACACATC
TCCAGCATATGTG
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1701+1484_1701+148
others(66): Show 
c.1701+1484_1701+1485insCTCTCCAGCATATGTGCACACACACA
CATAGGCACACACATCTCCAGCATATGTGCACACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484298
chr21:45484308 C
C
 G
G
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1701+1487C>G
c.1701+1487C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484308
chr21:45484323 A
A
 ACACATG
ACACATG
 40 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(37): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 40 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(37): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1506_1701+150
others(10): Show 
c.1701+1506_1701+1507insTGCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484323
chr21:45484357 C
C
 T
T
 1 a0028c0097t0001g0036
a0028c0097t0001g0036
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1701+1536C>T
c.1701+1536C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484357
chr21:45484370 ACG
ACG
 A
A
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1551_1701+155
others(6): Show 
c.1701+1551_1701+1552delGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484370
chr21:45484372 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1701+1551G>A
c.1701+1551G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484372
chr21:45484398 TAC
TAC
 T
T
 90 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(87): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 90 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(87): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1590_1701+159
others(6): Show 
c.1701+1590_1701+1591delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484398
chr21:45484398 TACAC
TACAC
 T
T
 9 a0001c0037t0001g0062
a0001c0037t0001g0157
a0002c0020t0001g0010
others(6): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0004c0100t0001g0039
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 9 HG01074.hp2
HG01081.hp1
HG02559.hp1
others(6): Show 
HG01074.hp2
HG01081.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp1
NA18906.hp1
 intron_variant MODIFIER c.1701+1588_1701+159
others(8): Show 
c.1701+1588_1701+1591delACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484398
chr21:45484399 ACACACAC
others(24): Show 
ACACACACACACACCTCTCCAGCATATGTGAG
 A
A
 2 a0001c0003t0003g0264
a0001c0069t0005g0038
a0001c0003t0003g0264
a0001c0069t0005g0038
 2 HG02109.hp2
NA18969.hp2
HG02109.hp2
NA18969.hp2
 intron_variant MODIFIER c.1701+1590_1701+162
others(35): Show 
c.1701+1590_1701+1620delACCTCTCCAGCATATGTGAGCACACA
CACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484399
chr21:45484442 C
C
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1701+1621C>G
c.1701+1621C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484442
chr21:45484453 G
G
 GTGTGCAC
others(24): Show 
GTGTGCACACACATGCACGCCTCTCCAGCATA
 2 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0027t0001g0019
a0001c0027t0001g0020
 2 HG02258.hp1
HG02723.hp2
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.1701+1645_1701+167
others(35): Show 
c.1701+1645_1701+1675dupTGCACGCCTCTCCAGCATATGTGCAC
ACACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484453
chr21:45484497 C
C
 T
T
 1 a0001c0002t0002g0060
a0001c0002t0002g0060
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1701+1676C>T
c.1701+1676C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484497
chr21:45484497 CACAT
CACAT
 C
C
 40 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(37): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 40 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(37): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+1677_1701+168
others(8): Show 
c.1701+1677_1701+1680delACAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484497
chr21:45484501 T
T
 C
C
 54 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(51): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 54 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1680T>C
c.1701+1680T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484501
chr21:45484570 C
C
 T
T
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1701+1749C>T
c.1701+1749C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484570
chr21:45484619 C
C
 CACAT
CACAT
 94 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(91): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 94 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(91): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1799_1701+180
others(8): Show 
c.1701+1799_1701+1802dupACAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484619
chr21:45484663 TACAC
TACAC
 T
T
 52 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(49): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0027c0070t0001g0012
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 52 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(49): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1701+1848_1701+185
others(8): Show 
c.1701+1848_1701+1851delCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45484663
chr21:45484693 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1701+1872C>T
c.1701+1872C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484693
chr21:45484717 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1701+1896A>G
c.1701+1896A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484717
chr21:45484727 A
A
 G
G
 1 a0001c0001t0001g0241
a0001c0001t0001g0241
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1701+1906A>G
c.1701+1906A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484727
chr21:45484822 A
A
 G
G
 44 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(41): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 44 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(41): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1701+2001A>G
c.1701+2001A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484822
chr21:45484919 A
A
 G
G
 51 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
others(48): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0100t0001g0039
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
 51 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(48): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-1942A>G
c.1702-1942A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45484919
chr21:45485052 A
A
 G
G
 1 a0001c0008t0002g0268
a0001c0008t0002g0268
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.1702-1809A>G
c.1702-1809A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485052
chr21:45485127 C
C
 T
T
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-1734C>T
c.1702-1734C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485127
chr21:45485149 A
A
 AT
AT
 43 a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
others(40): Show 
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0250
a0001c0002t0002g0088
a0001c0002t0002g0094
a0001c0002t0002g0111
a0001c0002t0002g0117
a0001c0002t0002g0238
a0001c0002t0006g0233
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0090
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0013t0002g0207
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0007c0034t0001g0282
a0009c0016t0001g0084
a0012c0088t0002g0006
a0015c0029t0003g0226
a0015c0029t0003g0227
a0019c0096t0015g0045
 43 HG00323.hp2
HG00408.hp1
HG00423.hp1
others(40): Show 
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02109.hp1
HG02135.hp2
HG02280.hp1
HG02451.hp2
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG03225.hp2
HG03654.hp2
HG03688.hp2
NA18522.hp1
NA18906.hp1
NA18944.hp2
NA18945.hp2
NA18995.hp1
NA18995.hp2
NA19002.hp2
NA19012.hp1
NA19012.hp2
NA19060.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.1702-1681dupT
c.1702-1681dupT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATT
ATT
 19 a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
others(16): Show 
a0001c0001t0001g0192
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0002g0107
a0001c0004t0001g0032
a0001c0004t0001g0087
a0001c0004t0001g0213
a0001c0006t0003g0204
a0001c0008t0002g0260
a0001c0019t0003g0065
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0004c0099t0003g0030
a0009c0016t0001g0209
a0027c0070t0001g0012
a0028c0097t0001g0036
 19 HG00621.hp1
HG00735.hp1
HG01123.hp1
others(16): Show 
HG00621.hp1
HG00735.hp1
HG01123.hp1
HG01346.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG02257.hp1
HG02273.hp1
HG02559.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03540.hp2
HG03710.hp1
NA19002.hp1
NA19043.hp1
NA19060.hp1
NA21309.hp2
 intron_variant MODIFIER c.1702-1682_1702-168
others(6): Show 
c.1702-1682_1702-1681dupTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(2): Show 
ATTTTTTTTT
 13 a0001c0003t0001g0043
a0001c0003t0001g0101
a0001c0003t0001g0181
others(10): Show 
a0001c0003t0001g0043
a0001c0003t0001g0101
a0001c0003t0001g0181
a0001c0003t0001g0254
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0194
a0001c0025t0002g0159
a0001c0033t0002g0169
a0001c0053t0001g0244
a0006c0026t0001g0083
 13 HG00597.hp2
HG00609.hp2
HG02004.hp2
others(10): Show 
HG00597.hp2
HG00609.hp2
HG02004.hp2
HG02055.hp1
HG02129.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp2
HG04204.hp2
NA18961.hp2
NA18969.hp2
NA19010.hp1
NA19074.hp2
 intron_variant MODIFIER c.1702-1689_1702-168
others(13): Show 
c.1702-1689_1702-1681dupTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(3): Show 
ATTTTTTTTTT
 8 a0001c0003t0001g0193
a0001c0003t0001g0249
a0001c0007t0002g0185
others(5): Show 
a0001c0003t0001g0193
a0001c0003t0001g0249
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0006c0026t0003g0219
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG00738.hp1
HG01106.hp2
HG02129.hp1
others(5): Show 
HG00738.hp1
HG01106.hp2
HG02129.hp1
HG02809.hp1
HG02886.hp1
HG03195.hp2
NA18990.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-1690_1702-168
others(14): Show 
c.1702-1690_1702-1681dupTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 4 a0001c0003t0001g0005
a0001c0003t0001g0085
a0001c0003t0001g0086
others(1): Show 
a0001c0003t0001g0005
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0025t0002g0164
 4 HG00438.hp1
HG00735.hp2
HG01106.hp1
others(1): Show 
HG00438.hp1
HG00735.hp2
HG01106.hp1
HG02055.hp2
 intron_variant MODIFIER c.1702-1691_1702-168
others(15): Show 
c.1702-1691_1702-1681dupTTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 2 a0001c0032t0001g0147
a0001c0033t0002g0100
a0001c0032t0001g0147
a0001c0033t0002g0100
 2 NA18954.hp1
NA18977.hp2
NA18954.hp1
NA18977.hp2
 intron_variant MODIFIER c.1702-1692_1702-168
others(16): Show 
c.1702-1692_1702-1681dupTTTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(7): Show 
ATTTTTTTTTTTTTT
 2 a0001c0003t0001g0221
a0032c0052t0002g0077
a0001c0003t0001g0221
a0032c0052t0002g0077
 2 HG00099.hp2
HG00140.hp2
HG00099.hp2
HG00140.hp2
 intron_variant MODIFIER c.1702-1694_1702-168
others(18): Show 
c.1702-1694_1702-1681dupTTTTTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(8): Show 
ATTTTTTTTTTTTTTT
 2 a0001c0003t0001g0145
a0016c0042t0001g0118
a0001c0003t0001g0145
a0016c0042t0001g0118
 2 HG01361.hp2
HG03579.hp2
HG01361.hp2
HG03579.hp2
 intron_variant MODIFIER c.1702-1695_1702-168
others(19): Show 
c.1702-1695_1702-1681dupTTTTTTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(9): Show 
ATTTTTTTTTTTTTTTT
 1 a0001c0082t0008g0053
a0001c0082t0008g0053
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1702-1696_1702-168
others(20): Show 
c.1702-1696_1702-1681dupTTTTTTTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 A
A
 ATTTTTTT
others(11): Show 
ATTTTTTTTTTTTTTTTTT
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1702-1698_1702-168
others(22): Show 
c.1702-1698_1702-1681dupTTTTTTTTTTTTTTTTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 AT
AT
 A
A
 47 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0273
others(44): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0273
a0001c0002t0001g0080
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0004t0001g0018
a0001c0004t0001g0112
a0001c0004t0016g0051
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0008t0002g0240
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0286
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0100t0001g0039
a0005c0058t0001g0165
a0005c0060t0001g0063
a0008c0018t0005g0130
a0008c0101t0005g0027
a0020c0094t0011g0075
a0030c0056t0001g0044
a0031c0092t0011g0190
a0035c0078t0001g0115
 47 HG00140.hp1
HG00323.hp1
HG00558.hp2
others(44): Show 
HG00140.hp1
HG00323.hp1
HG00558.hp2
HG00639.hp1
HG00733.hp2
HG01243.hp1
HG01258.hp1
HG01496.hp1
HG01891.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02486.hp1
HG02572.hp1
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03834.hp2
HG04115.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp1
NA18953.hp2
NA18954.hp2
NA18961.hp1
NA18964.hp2
NA18975.hp1
NA18998.hp2
NA18999.hp1
NA19010.hp2
NA19057.hp1
NA19057.hp2
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.1702-1681delT
c.1702-1681delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485149 ATT
ATT
 A
A
 20 a0001c0003t0001g0110
a0001c0003t0001g0287
a0002c0012t0004g0040
others(17): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0045t0006g0242
a0004c0091t0001g0056
a0008c0018t0005g0067
a0008c0018t0005g0132
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 20 HG00639.hp2
HG01258.hp2
HG01346.hp2
others(17): Show 
HG00639.hp2
HG01258.hp2
HG01346.hp2
HG02280.hp2
HG02451.hp1
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03239.hp1
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA18969.hp1
NA18983.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.1702-1682_1702-168
others(6): Show 
c.1702-1682_1702-1681delTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485149
chr21:45485180 T
T
 TTTTTTTT
others(7): Show 
TTTTTTTTTTTTTTA
 1 a0001c0003t0001g0048
a0001c0003t0001g0048
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1702-1681_1702-168
others(18): Show 
c.1702-1681_1702-1680insTTTTTTTTTTTTTA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485180
chr21:45485188 G
G
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1702-1673G>A
c.1702-1673G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485188
chr21:45485198 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1702-1663G>A
c.1702-1663G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485198
chr21:45485297 G
G
 A
A
 5 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
others(2): Show 
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0022c0068t0010g0004
a0024c0066t0010g0066
 5 HG02559.hp1
HG02630.hp1
HG02895.hp1
others(2): Show 
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.1702-1564G>A
c.1702-1564G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485297
chr21:45485317 TA
TA
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1702-1543delA
c.1702-1543delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485317
chr21:45485502 GA
GA
 G
G
 92 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(89): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0030c0056t0001g0044
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 92 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(89): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-1350delA
c.1702-1350delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45485502
chr21:45485591 G
G
 A
A
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.1702-1270G>A
c.1702-1270G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485591
chr21:45485648 G
G
 A
A
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1702-1213G>A
c.1702-1213G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485648
chr21:45485683 A
A
 C
C
 91 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(88): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 91 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(88): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-1178A>C
c.1702-1178A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485683
chr21:45485765 C
C
 T
T
 4 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(1): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 4 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(1): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.1702-1096C>T
c.1702-1096C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485765
chr21:45485878 G
G
 A
A
 6 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(3): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 6 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(3): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp1
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-983G>A
c.1702-983G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485878
chr21:45485910 C
C
 T
T
 28 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(25): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 28 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(25): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-951C>T
c.1702-951C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485910
chr21:45485912 C
C
 A
A
 2 a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0009t0001g0167
a0003c0010t0002g0068
 2 HG02683.hp1
NA20905.hp2
HG02683.hp1
NA20905.hp2
 intron_variant MODIFIER c.1702-949C>A
c.1702-949C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485912
chr21:45485993 G
G
 A
A
 1 a0001c0003t0001g0145
a0001c0003t0001g0145
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1702-868G>A
c.1702-868G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45485993
chr21:45486008 T
T
 G
G
 51 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(48): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 51 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(48): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-853T>G
c.1702-853T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486008
chr21:45486025 C
C
 T
T
 3 a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
 3 NA18953.hp1
NA18966.hp2
NA19074.hp1
NA18953.hp1
NA18966.hp2
NA19074.hp1
 intron_variant MODIFIER c.1702-836C>T
c.1702-836C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486025
chr21:45486073 G
G
 A
A
 2 a0022c0068t0010g0004
a0024c0066t0010g0066
a0022c0068t0010g0004
a0024c0066t0010g0066
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.1702-788G>A
c.1702-788G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486073
chr21:45486098 G
G
 C
C
 33 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(30): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 33 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(30): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02572.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-763G>C
c.1702-763G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486098
chr21:45486137 C
C
 CCGGGCTC
others(43): Show 
CCGGGCTCGCCTGCTTCTCACGGCTTTCGGACTAATAGAGTCACCGCAAT
G
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.1702-722_1702-673d
others(52): Show 
c.1702-722_1702-673dupGGGCTCGCCTGCTTCTCACGGCTTTCGG
ACTAATAGAGTCACCGCAATGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486137
chr21:45486209 G
G
 GTGGTCCC
others(62): Show 
GTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTT
GCCTGCCGGGGAGCCAGGGC
 2 a0001c0004t0001g0090
a0001c0090t0002g0089
a0001c0004t0001g0090
a0001c0090t0002g0089
 2 HG02698.hp2
NA20129.hp2
HG02698.hp2
NA20129.hp2
 intron_variant MODIFIER c.1702-603_1702-535d
others(71): Show 
c.1702-603_1702-535dupTGCCTGCCGGGGAGCCAGGGCTGGTCCC
AGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486209
chr21:45486209 GTGGTCCC
others(62): Show 
GTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTT
GCCTGCCGGGGAGCCAGGGC
 G
G
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1702-603_1702-535d
others(71): Show 
c.1702-603_1702-535delTGCCTGCCGGGGAGCCAGGGCTGGTCCC
AGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486209
chr21:45486251 CTCCCCTT
others(200): Show 
CTCCCCTTGCCTGCCGGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTC
CTCTCCTCTCTCCTCTCTTCTCCCCTCGCCTGCCGGGGAGCCAGGGCTGG
TCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTCGCCT
GCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTC
CTCTCTTT
 C
C
 40 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(37): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 40 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(37): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-603_1702-397d
others(2): Show 
c.1702-603_1702-397del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486251
chr21:45486258 TGCCTGCC
others(62): Show 
TGCCTGCCGGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCT
CTCTCCTCTCTTCTCCCCTC
 T
T
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1702-526_1702-458d
others(71): Show 
c.1702-526_1702-458delGGGGAGCCAGGGCTGGTCCCAGGGTCCT
GAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTCGCCTGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486258
chr21:45486265 C
C
 T
T
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1702-596C>T
c.1702-596C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486265
chr21:45486266 G
G
 GGGGAGCC
others(131): Show 
GGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTC
TCTTCTCCCCTTGCCTGCCGGGGAGCCAGGGCTGGTCCCAGGGTCCTGAG
CCTCCTCTCCTCTCTCCTCTCTTCTCCCCTCGCCTGCCC
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1702-535_1702-534i
others(140): Show 
c.1702-535_1702-534insTGCCTGCCGGGGAGCCAGGGCTGGTCCC
AGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTCGCCTGCCC
GGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCT
CTTCTCCCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486266
chr21:45486327 C
C
 T
T
 44 a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
others(41): Show 
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0093t0001g0251
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 44 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(41): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02615.hp2
HG02735.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.1702-534C>T
c.1702-534C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486327
chr21:45486332 G
G
 C
C
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-529G>C
c.1702-529G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486332
chr21:45486334 C
C
 T
T
 2 a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0034t0001g0141
a0007c0034t0001g0282
 2 HG00597.hp1
NA19060.hp2
HG00597.hp1
NA19060.hp2
 intron_variant MODIFIER c.1702-527C>T
c.1702-527C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486334
chr21:45486335 G
G
 C
C
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1702-526G>C
c.1702-526G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486335
chr21:45486335 G
G
 GGGGAGCC
others(62): Show 
GGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTC
TCTTCTCCCCTCGCCTGCCC
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.1702-472_1702-404d
others(71): Show 
c.1702-472_1702-404dupCTCCCCTCGCCTGCCCGGGAGCCAGGGC
TGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486335
chr21:45486335 GGGGAGCC
others(131): Show 
GGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTC
TCTTCTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAG
CCTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCC
 G
G
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1702-465_1702-328d
others(2): Show 
c.1702-465_1702-328del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486335
chr21:45486389 C
C
 CTCCCCTC
others(62): Show 
CTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTC
CTCTCCTCTCTCCTCTCTTT
 1 a0001c0006t0003g0180
a0001c0006t0003g0180
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1702-403_1702-335d
others(71): Show 
c.1702-403_1702-335dupTTCCCCTCGCCTGCCCGGGAGCCAGGGC
TGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486389
chr21:45486389 CTCCCCTC
others(62): Show 
CTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTC
CTCTCCTCTCTCCTCTCTTT
 C
C
 3 a0001c0004t0001g0032
a0001c0011t0001g0050
a0004c0099t0003g0030
a0001c0004t0001g0032
a0001c0011t0001g0050
a0004c0099t0003g0030
 3 HG01167.hp2
HG02922.hp1
NA19060.hp1
HG01167.hp2
HG02922.hp1
NA19060.hp1
 intron_variant MODIFIER c.1702-403_1702-335d
others(71): Show 
c.1702-403_1702-335delTTCCCCTCGCCTGCCCGGGAGCCAGGGC
TGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCTCTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486389
chr21:45486393 C
C
 G
G
 4 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
others(1): Show 
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.1702-468C>G
c.1702-468C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486393
chr21:45486396 CGCCTGCC
others(131): Show 
CGCCTGCCCGGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCT
CTCTCCTCTCTTTTCCCCTCGCCTGCCCGGGAGCCAGGGCTGGTCCCAGG
GTCCTGAGCCTCCTCTCCTCTCTCCTCTCTTCTCCCCTT
 C
C
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1702-441_1702-304d
others(2): Show 
c.1702-441_1702-304del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486396
chr21:45486400 TG
TG
 T
T
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-460delG
c.1702-460delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486400
chr21:45486405 GGGAGCCA
others(61): Show 
GGGAGCCAGGGCTGGTCCCAGGGTCCTGAGCCTCCTCTCCTCTCTCCTCT
CTTTTCCCCTCGCCTGCCC
 G
G
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-453_1702-386d
others(70): Show 
c.1702-453_1702-386delAGCCAGGGCTGGTCCCAGGGTCCTGAGC
CTCCTCTCCTCTCTCCTCTCTTTTCCCCTCGCCTGCCCGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 INFO_REALIGN_3_PRIME chr21 45486405
chr21:45486458 T
T
 C
C
 65 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(62): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 65 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(62): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01496.hp1
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03579.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1702-403T>C
c.1702-403T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486458
chr21:45486465 C
C
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1702-396C>T
c.1702-396C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486465
chr21:45486470 G
G
 C
C
 1 a0001c0011t0001g0050
a0001c0011t0001g0050
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1702-391G>C
c.1702-391G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486470
chr21:45486473 C
C
 G
G
 45 a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
others(42): Show 
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 45 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(42): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG01167.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-388C>G
c.1702-388C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486473
chr21:45486534 T
T
 C
C
 50 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(47): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 50 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(47): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-327T>C
c.1702-327T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486534
chr21:45486574 C
C
 G
G
 87 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(84): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 87 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(84): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-287C>G
c.1702-287C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486574
chr21:45486586 C
C
 T
T
 1 a0001c0001t0001g0273
a0001c0001t0001g0273
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1702-275C>T
c.1702-275C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486586
chr21:45486588 C
C
 G
G
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1702-273C>G
c.1702-273C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486588
chr21:45486623 C
C
 T
T
 1 a0001c0005t0002g0158
a0001c0005t0002g0158
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.1702-238C>T
c.1702-238C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486623
chr21:45486628 C
C
 T
T
 2 a0001c0002t0002g0074
a0001c0002t0002g0102
a0001c0002t0002g0074
a0001c0002t0002g0102
 2 HG00323.hp1
HG01255.hp1
HG00323.hp1
HG01255.hp1
 intron_variant MODIFIER c.1702-233C>T
c.1702-233C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486628
chr21:45486713 C
C
 T
T
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-148C>T
c.1702-148C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486713
chr21:45486776 A
A
 G
G
 44 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(41): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0069t0005g0038
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 44 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(41): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03130.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1702-85A>G
c.1702-85A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486776
chr21:45486796 C
C
 T
T
 12 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(9): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 12 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(9): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.1702-65C>T
c.1702-65C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486796
chr21:45486797 G
G
 A
A
 112 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(109): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 112 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(109): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01891.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1702-64G>A
c.1702-64G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 15/41 chr21 45486797
chr21:45486999 A
A
 AC
AC
 20 a0001c0001t0001g0033
a0001c0001t0001g0128
a0001c0001t0001g0248
others(17): Show 
a0001c0001t0001g0033
a0001c0001t0001g0128
a0001c0001t0001g0248
a0001c0002t0001g0080
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0107
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0181
a0001c0004t0001g0071
a0001c0006t0003g0215
a0001c0006t0003g0291
a0001c0013t0002g0207
a0001c0032t0001g0147
a0002c0012t0004g0040
a0002c0021t0002g0186
a0004c0100t0001g0039
a0007c0034t0001g0141
a0011c0040t0001g0046
 20 HG00423.hp2
HG00597.hp1
HG00735.hp1
others(17): Show 
HG00423.hp2
HG00597.hp1
HG00735.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01192.hp1
HG01978.hp2
HG02258.hp2
HG02886.hp2
HG03098.hp1
HG03098.hp2
HG04115.hp2
NA18906.hp1
NA18952.hp1
NA18975.hp2
NA18977.hp2
NA19002.hp1
NA19010.hp1
NA20300.hp1
 intron_variant MODIFIER c.1833+9dupC
c.1833+9dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 INFO_REALIGN_3_PRIME chr21 45486999
chr21:45487026 C
C
 A
A
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1833+34C>A
c.1833+34C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487026
chr21:45487046 A
A
 G
G
 95 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(92): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 95 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(92): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19057.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1833+54A>G
c.1833+54A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487046
chr21:45487089 T
T
 C
C
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1833+97T>C
c.1833+97T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487089
chr21:45487134 T
T
 A
A
 5 a0001c0001t0001g0135
a0001c0001t0001g0253
a0001c0024t0001g0229
others(2): Show 
a0001c0001t0001g0135
a0001c0001t0001g0253
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0064t0001g0061
 5 HG00558.hp1
HG02083.hp1
HG02135.hp2
others(2): Show 
HG00558.hp1
HG02083.hp1
HG02135.hp2
NA18944.hp2
NA18990.hp1
 intron_variant MODIFIER c.1833+142T>A
c.1833+142T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487134
chr21:45487167 G
G
 A
A
 13 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(10): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
 13 HG00544.hp1
HG02683.hp1
HG04228.hp1
others(10): Show 
HG00544.hp1
HG02683.hp1
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.1833+175G>A
c.1833+175G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487167
chr21:45487170 C
C
 T
T
 10 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(7): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
 10 HG01167.hp1
HG02280.hp2
HG02622.hp2
others(7): Show 
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03831.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.1833+178C>T
c.1833+178C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487170
chr21:45487171 G
G
 A
A
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1833+179G>A
c.1833+179G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487171
chr21:45487323 G
G
 A
A
 1 a0001c0007t0002g0194
a0001c0007t0002g0194
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1834-124G>A
c.1834-124G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487323
chr21:45487373 C
C
 T
T
 45 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(42): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1834-74C>T
c.1834-74C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487373
chr21:45487414 C
C
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1834-33C>T
c.1834-33C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487414
chr21:45487424 C
C
 A
A
 40 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(37): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
 40 HG00544.hp1
HG00639.hp2
HG00733.hp2
others(37): Show 
HG00544.hp1
HG00639.hp2
HG00733.hp2
HG01167.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1834-23C>A
c.1834-23C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487424
chr21:45487431 C
C
 T
T
 1 a0001c0004t0001g0026
a0001c0004t0001g0026
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1834-16C>T
c.1834-16C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 16/41 chr21 45487431
chr21:45487565 G
G
 A
A
 55 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0003t0001g0005
others(52): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0013c0051t0001g0195
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 55 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(52): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1896+56G>A
c.1896+56G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45487565
chr21:45487591 C
C
 T
T
 1 a0001c0004t0001g0225
a0001c0004t0001g0225
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1896+82C>T
c.1896+82C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45487591
chr21:45487660 G
G
 A
A
 1 a0001c0006t0003g0204
a0001c0006t0003g0204
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.1896+151G>A
c.1896+151G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45487660
chr21:45487760 A
A
 G
G
 9 a0001c0001t0001g0025
a0001c0001t0001g0150
a0001c0011t0001g0016
others(6): Show 
a0001c0001t0001g0025
a0001c0001t0001g0150
a0001c0011t0001g0016
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0002c0021t0002g0186
a0008c0101t0005g0027
 9 HG01261.hp2
HG02622.hp1
HG03209.hp2
others(6): Show 
HG01261.hp2
HG02622.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.1896+251A>G
c.1896+251A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45487760
chr21:45487847 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1896+338A>G
c.1896+338A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45487847
chr21:45488040 A
A
 G
G
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.1897-378A>G
c.1897-378A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488040
chr21:45488063 G
G
 A
A
 21 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(18): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1897-355G>A
c.1897-355G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488063
chr21:45488064 C
C
 A
A
 2 a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0035t0001g0072
a0001c0035t0001g0073
 2 NA19005.hp2
NA19057.hp2
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.1897-354C>A
c.1897-354C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488064
chr21:45488094 G
G
 A
A
 77 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(74): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 77 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(74): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1897-324G>A
c.1897-324G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488094
chr21:45488121 G
G
 A
A
 2 a0022c0068t0010g0004
a0024c0066t0010g0066
a0022c0068t0010g0004
a0024c0066t0010g0066
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.1897-297G>A
c.1897-297G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488121
chr21:45488189 C
C
 G
G
 28 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(25): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 28 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(25): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1897-229C>G
c.1897-229C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488189
chr21:45488246 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1897-172C>T
c.1897-172C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488246
chr21:45488275 C
C
 T
T
 1 a0002c0012t0004g0049
a0002c0012t0004g0049
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1897-143C>T
c.1897-143C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488275
chr21:45488323 G
G
 A
A
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.1897-95G>A
c.1897-95G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488323
chr21:45488354 G
G
 A
A
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1897-64G>A
c.1897-64G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 17/41 chr21 45488354
chr21:45488584 A
A
 T
T
 1 a0001c0004t0001g0222
a0001c0004t0001g0222
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.1923+140A>T
c.1923+140A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45488584
chr21:45488655 C
C
 T
T
 8 a0001c0037t0001g0062
a0001c0037t0001g0157
a0009c0016t0001g0084
others(5): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 8 HG01070.hp2
HG01123.hp1
HG02970.hp2
others(5): Show 
HG01070.hp2
HG01123.hp1
HG02970.hp2
HG03195.hp1
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
 intron_variant MODIFIER c.1923+211C>T
c.1923+211C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45488655
chr21:45488675 G
G
 A
A
 6 a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
others(3): Show 
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 6 HG01070.hp2
HG01123.hp1
HG03654.hp1
others(3): Show 
HG01070.hp2
HG01123.hp1
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
 intron_variant MODIFIER c.1923+231G>A
c.1923+231G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45488675
chr21:45488922 C
C
 G
G
 18 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(15): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 18 HG00639.hp2
HG01074.hp2
HG01081.hp1
others(15): Show 
HG00639.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1923+478C>G
c.1923+478C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45488922
chr21:45488949 A
A
 G
G
 157 a0001c0001t0001g0253
a0001c0003t0001g0005
a0001c0003t0001g0043
others(154): Show 
a0001c0001t0001g0253
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 157 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(154): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1923+505A>G
c.1923+505A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45488949
chr21:45489084 G
G
 A
A
 38 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(35): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 38 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(35): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02602.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1924-402G>A
c.1924-402G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45489084
chr21:45489213 G
G
 A
A
 23 a0001c0002t0003g0143
a0001c0098t0001g0007
a0003c0009t0001g0054
others(20): Show 
a0001c0002t0003g0143
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 23 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(20): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18953.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1924-273G>A
c.1924-273G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 18/41 chr21 45489213
chr21:45489544 G
G
 C
C
 2 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0085
a0001c0003t0001g0086
 2 HG00735.hp2
HG01106.hp1
HG00735.hp2
HG01106.hp1
 intron_variant MODIFIER c.1959+23G>C
c.1959+23G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489544
chr21:45489580 G
G
 A
A
 1 a0014c0039t0009g0198
a0014c0039t0009g0198
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1959+59G>A
c.1959+59G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489580
chr21:45489602 G
G
 A
A
 48 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(45): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 48 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(45): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1959+81G>A
c.1959+81G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489602
chr21:45489612 T
T
 C
C
 9 a0001c0001t0001g0243
a0001c0003t0001g0221
a0001c0098t0001g0007
others(6): Show 
a0001c0001t0001g0243
a0001c0003t0001g0221
a0001c0098t0001g0007
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 9 HG00099.hp2
HG01070.hp2
HG01123.hp1
others(6): Show 
HG00099.hp2
HG01070.hp2
HG01123.hp1
HG02451.hp2
HG03654.hp1
HG03704.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
 intron_variant MODIFIER c.1959+91T>C
c.1959+91T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489612
chr21:45489641 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1959+120C>T
c.1959+120C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489641
chr21:45489713 G
G
 A
A
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1959+192G>A
c.1959+192G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489713
chr21:45489733 C
C
 T
T
 2 a0001c0001t0001g0099
a0001c0002t0002g0088
a0001c0001t0001g0099
a0001c0002t0002g0088
 2 HG01074.hp1
HG01517.hp2
HG01074.hp1
HG01517.hp2
 intron_variant MODIFIER c.1959+212C>T
c.1959+212C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489733
chr21:45489822 T
T
 TTCCCCGA
others(66): Show 
TTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTCCCCCTCCCC
CACTTCCACCTGCCCCACACCTCC
 20 a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
others(17): Show 
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0080
a0001c0002t0002g0091
a0001c0002t0002g0178
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0055t0003g0152
a0001c0062t0002g0097
a0015c0029t0003g0226
a0015c0029t0003g0227
 20 HG00408.hp1
HG01070.hp1
HG01081.hp2
others(17): Show 
HG00408.hp1
HG01070.hp1
HG01081.hp2
HG01243.hp2
HG01515.hp1
HG01517.hp1
HG01928.hp2
HG02132.hp2
HG02683.hp2
HG02698.hp1
HG03654.hp2
HG03704.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
NA18945.hp2
NA19002.hp1
NA19012.hp1
NA19064.hp1
NA19088.hp1
 intron_variant MODIFIER c.1959+340_1959+341i
others(75): Show 
c.1959+340_1959+341insCCCCCTCCCCCACTTCCACCTGCCCCAC
ACCTCCTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489822
chr21:45489822 T
T
 TTCCCCGA
others(67): Show 
TTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCCACTTCCCCCTCCC
CCACTTCCACCTGCCCCACACCTCC
 1 a0001c0002t0002g0060
a0001c0002t0002g0060
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.1959+336_1959+337i
others(76): Show 
c.1959+336_1959+337insCACTTCCCCCTCCCCCACTTCCACCTGC
CCCACACCTCCTCCCCGACTTCCCCCTCCCCCACACTGCCTCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489822
chr21:45489822 T
T
 TTCCCGAC
others(65): Show 
TTCCCGACTTCCCCCTCCCCCACACTGCCTCCCCCACTTCCCCCTCCCCC
ACTTCCACCTGCCCCACACCTCC
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.1959+305_1959+306i
others(74): Show 
c.1959+305_1959+306insGACTTCCCCCTCCCCCACACTGCCTCCC
CCACTTCCCCCTCCCCCACTTCCACCTGCCCCACACCTCCTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489822
chr21:45489857 CACTTGCC
others(22): Show 
CACTTGCCCCTCCCCCACACCTCCTCCCCG
 C
C
 54 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(51): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 54 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(51): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18954.hp1
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1959+341_1959+369d
others(31): Show 
c.1959+341_1959+369delGCCCCTCCCCCACACCTCCTCCCCGACT
T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489857
chr21:45489862 G
G
 C
C
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1959+341G>C
c.1959+341G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489862
chr21:45489868 C
C
 CCCCCACT
others(8): Show 
CCCCCACTTCCACCTG
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1959+353_1959+354i
others(17): Show 
c.1959+353_1959+354insTTCCACCTGCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489868
chr21:45489868 CCCCCACA
others(37): Show 
CCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCACCTG
 C
C
 2 a0001c0098t0001g0007
a0004c0099t0003g0030
a0001c0098t0001g0007
a0004c0099t0003g0030
 2 HG02451.hp2
HG02922.hp1
HG02451.hp2
HG02922.hp1
 intron_variant MODIFIER c.1960-367_1960-324d
others(46): Show 
c.1960-367_1960-324delACCTGCCCCACACCTCCTCCCCGACTTC
CCCCTCCCCCACTTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489868
chr21:45489886 G
G
 C
C
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1959+365G>C
c.1959+365G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489886
chr21:45489891 C
C
 G
G
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1959+370C>G
c.1959+370C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489891
chr21:45489893 C
C
 CCCTCCCC
others(7): Show 
CCCTCCCCCACACTG
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1960-372_1960-371i
others(16): Show 
c.1960-372_1960-371insACTGCCTCCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489893
chr21:45489897 CCCCCACT
others(8): Show 
CCCCCACTTCCACCTG
 C
C
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1960-371_1960-357d
others(17): Show 
c.1960-371_1960-357delTTCCACCTGCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489897
chr21:45489906 C
C
 G
G
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1960-369C>G
c.1960-369C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489906
chr21:45489908 A
A
 C
C
 8 a0001c0003t0001g0101
a0001c0089t0001g0119
a0009c0016t0001g0084
others(5): Show 
a0001c0003t0001g0101
a0001c0089t0001g0119
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 8 HG01070.hp2
HG01123.hp1
HG03017.hp1
others(5): Show 
HG01070.hp2
HG01123.hp1
HG03017.hp1
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18961.hp2
 intron_variant MODIFIER c.1960-367A>C
c.1960-367A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489908
chr21:45489908 ACCTGCCC
others(37): Show 
ACCTGCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCC
 A
A
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0063t0001g0144
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG03209.hp1
HG06807.hp1
 intron_variant MODIFIER c.1960-345_1960-302d
others(46): Show 
c.1960-345_1960-302delGACTTCCCCCTCCCCCACTTCCCCCTGC
CCCACACCTCCTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489908
chr21:45489912 G
G
 C
C
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1960-363G>C
c.1960-363G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489912
chr21:45489912 GCCCCACA
others(78): Show 
GCCCCACACCTCCTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCA
CACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC
 G
G
 1 a0012c0088t0002g0006
a0012c0088t0002g0006
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1960-345_1960-261d
others(87): Show 
c.1960-345_1960-261delGACTTCCCCCTCCCCCACTTCCCCCTGC
CCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCCCACACCT
CCTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489912
chr21:45489924 CTCCCCGA
others(64): Show 
CTCCCCGACTTCCCCCTCCCCCACTTCCCCCTGCCCCACACCTCCTCCCC
CACACCCTCCCCCACTTCCCCG
 C
C
 1 a0002c0083t0001g0237
a0002c0083t0001g0237
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1960-345_1960-275d
others(73): Show 
c.1960-345_1960-275delGACTTCCCCCTCCCCCACTTCCCCCTGC
CCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489924
chr21:45489940 T
T
 C
C
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1960-335T>C
c.1960-335T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489940
chr21:45489941 CCCCCACT
others(8): Show 
CCCCCACTTCCCCCTG
 C
C
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1960-327_1960-313d
others(17): Show 
c.1960-327_1960-313delTTCCCCCTGCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489941
chr21:45489952 C
C
 A
A
 2 a0001c0089t0001g0119
a0019c0096t0015g0045
a0001c0089t0001g0119
a0019c0096t0015g0045
 2 HG02280.hp1
HG03017.hp1
HG02280.hp1
HG03017.hp1
 intron_variant MODIFIER c.1960-323C>A
c.1960-323C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489952
chr21:45489956 G
G
 GCCCCACA
others(34): Show 
GCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC
 1 a0001c0005t0003g0211
a0001c0005t0003g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1960-257_1960-217d
others(43): Show 
c.1960-257_1960-217dupACCCTCCCCCACTTCCCCGTCCCCCACA
CCTCCTCCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489956
chr21:45489956 GCCCCACA
others(34): Show 
GCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC
 G
G
 6 a0001c0003t0001g0145
a0009c0016t0001g0084
a0009c0016t0001g0209
others(3): Show 
a0001c0003t0001g0145
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0025c0050t0002g0108
 6 HG01070.hp2
HG01123.hp1
HG03579.hp2
others(3): Show 
HG01070.hp2
HG01123.hp1
HG03579.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
 intron_variant MODIFIER c.1960-257_1960-217d
others(43): Show 
c.1960-257_1960-217delACCCTCCCCCACTTCCCCGTCCCCCACA
CCTCCTCCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489956
chr21:45489974 C
C
 G
G
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0001c0089t0001g0119
a0019c0096t0015g0045
 6 HG02280.hp1
HG02622.hp1
HG03017.hp1
others(3): Show 
HG02280.hp1
HG02622.hp1
HG03017.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1960-301C>G
c.1960-301C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489974
chr21:45489975 A
A
 ACTT
ACTT
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0001c0089t0001g0119
a0019c0096t0015g0045
 6 HG02280.hp1
HG02622.hp1
HG03017.hp1
others(3): Show 
HG02280.hp1
HG02622.hp1
HG03017.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1960-299_1960-298i
others(5): Show 
c.1960-299_1960-298insTTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489975
chr21:45489977 A
A
 C
C
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0001c0089t0001g0119
a0019c0096t0015g0045
 6 HG02280.hp1
HG02622.hp1
HG03017.hp1
others(3): Show 
HG02280.hp1
HG02622.hp1
HG03017.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1960-298A>C
c.1960-298A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489977
chr21:45489980 CTCCCCCA
others(8): Show 
CTCCCCCACTTCCCCG
 C
C
 1 a0001c0004t0001g0267
a0001c0004t0001g0267
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.1960-286_1960-272d
others(17): Show 
c.1960-286_1960-272delTTCCCCGTCCCCCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45489980
chr21:45489995 G
G
 C
C
 9 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(6): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0001c0089t0001g0119
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
 9 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(6): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp1
HG02717.hp2
HG03017.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1960-280G>C
c.1960-280G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489995
chr21:45489997 C
C
 G
G
 9 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(6): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0001c0089t0001g0119
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
 9 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(6): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02622.hp1
HG02717.hp2
HG03017.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1960-278C>G
c.1960-278C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45489997
chr21:45490001 C
C
 T
T
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1960-274C>T
c.1960-274C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490001
chr21:45490015 CACACCCT
others(44): Show 
CACACCCTCCCCCACTTCCCCGTCCCCCACACCTCCTCCCCCACTCCCCC
CG
 C
C
 15 a0001c0038t0004g0028
a0003c0009t0001g0054
a0003c0009t0001g0167
others(12): Show 
a0001c0038t0004g0028
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0026c0044t0001g0037
 15 HG00544.hp1
HG00733.hp2
HG02572.hp1
others(12): Show 
HG00544.hp1
HG00733.hp2
HG02572.hp1
HG02683.hp1
HG02922.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.1960-257_1960-207d
others(53): Show 
c.1960-257_1960-207delACCCTCCCCCACTTCCCCGTCCCCCACA
CCTCCTCCCCCACTCCCCCCGAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490015
chr21:45490016 ACACCCTC
others(26): Show 
ACACCCTCCCCCACTTCCCCGTCCCCCACACCTC
 A
A
 5 a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
others(2): Show 
a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
a0018c0095t0001g0146
a0020c0094t0011g0075
 5 HG00438.hp1
HG00597.hp2
HG02129.hp2
others(2): Show 
HG00438.hp1
HG00597.hp2
HG02129.hp2
HG02717.hp1
NA21309.hp1
 intron_variant MODIFIER c.1960-257_1960-225d
others(35): Show 
c.1960-257_1960-225delACCCTCCCCCACTTCCCCGTCCCCCACA
CCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490016
chr21:45490017 CACCCT
CACCCT
 C
C
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1960-257_1960-253d
others(7): Show 
c.1960-257_1960-253delACCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490017
chr21:45490017 CACCCTCC
others(27): Show 
CACCCTCCCCCACTTCCCCGTCCCCCACACCTCCT
 C
C
 49 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(46): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 49 HG00099.hp2
HG00140.hp2
HG00609.hp2
others(46): Show 
HG00099.hp2
HG00140.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960-257_1960-224d
others(36): Show 
c.1960-257_1960-224delACCCTCCCCCACTTCCCCGTCCCCCACA
CCTCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490017
chr21:45490018 A
A
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1960-257A>T
c.1960-257A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490018
chr21:45490023 C
C
 T
T
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1960-252C>T
c.1960-252C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490023
chr21:45490027 C
C
 G
G
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1960-248C>G
c.1960-248C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490027
chr21:45490030 TTCCCCGT
others(15): Show 
TTCCCCGTCCCCCACACCTCCTC
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1960-244_1960-223d
others(24): Show 
c.1960-244_1960-223delTCCCCGTCCCCCACACCTCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490030
chr21:45490031 T
T
 C
C
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1960-244T>C
c.1960-244T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490031
chr21:45490034 CCGTCCCC
others(4): Show 
CCGTCCCCCACA
 C
C
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1960-239_1960-229d
others(13): Show 
c.1960-239_1960-229delGTCCCCCACAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490034
chr21:45490048 T
T
 G
G
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1960-227T>G
c.1960-227T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490048
chr21:45490049 C
C
 A
A
 6 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(3): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
 6 HG01243.hp1
HG02258.hp1
HG02723.hp2
others(3): Show 
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
 intron_variant MODIFIER c.1960-226C>A
c.1960-226C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490049
chr21:45490052 C
C
 CCCCCACT
CCCCCACT
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.1960-218_1960-212d
others(9): Show 
c.1960-218_1960-212dupACTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490052
chr21:45490052 C
C
 T
T
 49 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(46): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 49 HG00099.hp2
HG00140.hp2
HG00609.hp2
others(46): Show 
HG00099.hp2
HG00140.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960-223C>T
c.1960-223C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490052
chr21:45490052 CCCCCACT
others(10): Show 
CCCCCACTCCCCCCGACT
 C
C
 9 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(6): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0023c0085t0002g0106
 9 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(6): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
 intron_variant MODIFIER c.1960-218_1960-202d
others(19): Show 
c.1960-218_1960-202delACTCCCCCCGACTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490052
chr21:45490053 CCCCACTC
others(9): Show 
CCCCACTCCCCCCGACT
 C
C
 1 a0002c0012t0004g0058
a0002c0012t0004g0058
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1960-218_1960-203d
others(18): Show 
c.1960-218_1960-203delACTCCCCCCGACTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490053
chr21:45490056 CA
CA
 C
C
 8 a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
others(5): Show 
a0001c0001t0001g0191
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0054t0002g0201
a0005c0060t0001g0063
a0018c0095t0001g0146
a0020c0094t0011g0075
 8 HG01243.hp1
HG02258.hp1
HG02717.hp1
others(5): Show 
HG01243.hp1
HG02258.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp1
NA21309.hp1
 intron_variant MODIFIER c.1960-218delA
c.1960-218delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490056
chr21:45490056 CACTCCCC
others(3): Show 
CACTCCCCCCG
 C
C
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0029
a0003c0047t0001g0069
 5 HG02622.hp1
HG03209.hp2
HG03471.hp2
others(2): Show 
HG02622.hp1
HG03209.hp2
HG03471.hp2
HG04228.hp1
NA18906.hp2
 intron_variant MODIFIER c.1960-209_1960-200d
others(12): Show 
c.1960-209_1960-200delGACTCCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490056
chr21:45490057 A
A
 ACTCCCCC
ACTCCCCC
 3 a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
 3 HG02280.hp1
HG02572.hp2
HG02717.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.1960-216_1960-210d
others(9): Show 
c.1960-216_1960-210dupTCCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490057
chr21:45490057 A
A
 ACTCCCCC
others(10): Show 
ACTCCCCCCGACTCCCCC
 1 a0001c0041t0001g0155
a0001c0041t0001g0155
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1960-193_1960-177d
others(19): Show 
c.1960-193_1960-177dupCGACTCCCCCCTCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490057
chr21:45490057 A
A
 C
C
 3 a0001c0002t0001g0080
a0001c0098t0001g0007
a0004c0100t0001g0039
a0001c0002t0001g0080
a0001c0098t0001g0007
a0004c0100t0001g0039
 3 HG02451.hp2
HG03098.hp1
HG04115.hp2
HG02451.hp2
HG03098.hp1
HG04115.hp2
 intron_variant MODIFIER c.1960-218A>C
c.1960-218A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490057
chr21:45490057 ACTCCCCC
others(10): Show 
ACTCCCCCCGACTCCCCC
 A
A
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1960-193_1960-177d
others(19): Show 
c.1960-193_1960-177delCGACTCCCCCCTCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490057
chr21:45490060 C
C
 G
G
 1 a0006c0026t0003g0219
a0006c0026t0003g0219
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960-215C>G
c.1960-215C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490060
chr21:45490065 C
C
 T
T
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1960-210C>T
c.1960-210C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490065
chr21:45490076 T
T
 C
C
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1960-199T>C
c.1960-199T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490076
chr21:45490077 C
C
 T
T
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1960-198C>T
c.1960-198C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490077
chr21:45490078 CCCCCGAC
others(1): Show 
CCCCCGACT
 C
C
 38 a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
others(35): Show 
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0082t0008g0053
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0036c0048t0004g0184
a0037c0049t0004g0183
 38 HG00099.hp2
HG00438.hp1
HG00597.hp2
others(35): Show 
HG00099.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG03017.hp2
HG03195.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960-192_1960-185d
others(10): Show 
c.1960-192_1960-185delGACTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490078
chr21:45490082 C
C
 CGACTCCC
others(10): Show 
CGACTCCCCCCTCCCCCT
 1 a0017c0043t0002g0015
a0017c0043t0002g0015
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.1960-176_1960-160d
others(19): Show 
c.1960-176_1960-160dupTGACTCCCCCCTCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490082
chr21:45490082 C
C
 T
T
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0098t0001g0007
 6 HG02451.hp2
HG02572.hp1
HG02622.hp1
others(3): Show 
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.1960-193C>T
c.1960-193C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490082
chr21:45490082 CGACTCCC
others(10): Show 
CGACTCCCCCCTCCCCCT
 C
C
 1 a0001c0002t0002g0102
a0001c0002t0002g0102
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.1960-176_1960-160d
others(19): Show 
c.1960-176_1960-160delTGACTCCCCCCTCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490082
chr21:45490083 G
G
 A
A
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.1960-192G>A
c.1960-192G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490083
chr21:45490084 A
A
 T
T
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1960-191A>T
c.1960-191A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490084
chr21:45490086 T
T
 C
C
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1960-189T>C
c.1960-189T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490086
chr21:45490091 C
C
 T
T
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1960-184C>T
c.1960-184C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490091
chr21:45490099 T
T
 C
C
 86 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(83): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 86 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(83): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960-176T>C
c.1960-176T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490099
chr21:45490103 TC
TC
 T
T
 34 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(31): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0054t0002g0201
a0001c0063t0001g0144
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0005c0060t0001g0063
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 34 HG00544.hp1
HG00733.hp2
HG01243.hp1
others(31): Show 
HG00544.hp1
HG00733.hp2
HG01243.hp1
HG02145.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1960-166delC
c.1960-166delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 INFO_REALIGN_3_PRIME chr21 45490103
chr21:45490187 G
G
 A
A
 5 a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
others(2): Show 
a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.1960-88G>A
c.1960-88G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490187
chr21:45490225 A
A
 G
G
 1 a0001c0003t0001g0182
a0001c0003t0001g0182
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.1960-50A>G
c.1960-50A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490225
chr21:45490253 G
G
 A
A
 26 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(23): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 26 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(23): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1960-22G>A
c.1960-22G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 19/41 chr21 45490253
chr21:45490401 C
C
 T
T
 4 a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0002t0001g0024
others(1): Show 
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0002t0001g0024
a0001c0002t0001g0095
 4 HG00280.hp2
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00280.hp2
HG01081.hp2
HG01243.hp2
HG03710.hp1
 intron_variant MODIFIER c.2031+55C>T
c.2031+55C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490401
chr21:45490407 T
T
 C
C
 82 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(79): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 82 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(79): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2031+61T>C
c.2031+61T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490407
chr21:45490438 C
C
 G
G
 53 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(50): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 53 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2031+92C>G
c.2031+92C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490438
chr21:45490439 C
C
 T
T
 53 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(50): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 53 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2031+93C>T
c.2031+93C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490439
chr21:45490451 T
T
 C
C
 53 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(50): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 53 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(50): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2031+105T>C
c.2031+105T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490451
chr21:45490452 C
C
 T
T
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.2031+106C>T
c.2031+106C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490452
chr21:45490466 G
G
 GTGGGTCC
others(78): Show 
GTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGT
GCCCTCGTGGGTTCCTGGGTCTCCGTGTGTCCCTCC
 15 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(12): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0088t0002g0006
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
 15 HG00639.hp2
HG01070.hp2
HG01123.hp1
others(12): Show 
HG00639.hp2
HG01070.hp2
HG01123.hp1
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03831.hp1
HG04184.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.2031+137_2031+138i
others(87): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTCCCTGGGCCTCC
ATGTGCCCTCGTGGGTTCCTGGGTCTCCGTGTGTCCCTCCTGGGTCCCTG
GGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490466
chr21:45490466 G
G
 GTGGGTCC
others(50): Show 
GTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGTCTCCGTGT
GTCCCTCC
 1 a0012c0065t0002g0096
a0012c0065t0002g0096
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2031+137_2031+138i
others(59): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTTCCTGGGTCTCC
GTGTGTCCCTCCTGGGTCCCTGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490466
chr21:45490467 T
T
 TGGGTCCC
others(77): Show 
TGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTG
CCCTCGTGGGTTCCTGGGCCTCCATGTGCCCTCCC
 3 a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0003t0001g0181
a0001c0003t0001g0289
a0001c0003t0008g0166
 3 HG02135.hp1
HG02155.hp2
NA19010.hp1
HG02135.hp1
HG02155.hp2
NA19010.hp1
 intron_variant MODIFIER c.2031+137_2031+138i
others(86): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTCCCTGGGCCTCC
ATGTGCCCTCGTGGGTTCCTGGGCCTCCATGTGCCCTCCCGGGTCCCTGG
GCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490467
chr21:45490467 T
T
 TGGGTCCC
others(49): Show 
TGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGCCTCCATGTG
CCCTCCC
 37 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(34): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0016c0042t0001g0118
a0036c0048t0004g0184
a0037c0049t0004g0183
 37 HG00099.hp2
HG00438.hp1
HG00597.hp2
others(34): Show 
HG00099.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02602.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19064.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2031+137_2031+138i
others(58): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTTCCTGGGCCTCC
ATGTGCCCTCCCGGGTCCCTGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490467
chr21:45490467 T
T
 TGGGTCCC
others(77): Show 
TGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGCCTCCATGTG
CCCTCCCGGGTCCCTGGGCCTCCGTGTGCCCTCCC
 4 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
others(1): Show 
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.2031+137_2031+138i
others(86): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTTCCTGGGCCTCC
ATGTGCCCTCCCGGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGG
GCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490467
chr21:45490467 T
T
 TGGGTTCC
others(21): Show 
TGGGTTCCTGGGCCTCCATGTGCCCTCCC
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.2031+125_2031+126i
others(30): Show 
c.2031+125_2031+126insTCCTGGGCCTCCATGTGCCCTCCCGGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490467
chr21:45490468 GGGTCCCT
others(99): Show 
GGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCTCTGGGCCTCCGTGTGC
CCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGC
CCTCTCA
 G
G
 2 a0004c0100t0001g0039
a0027c0070t0001g0012
a0004c0100t0001g0039
a0027c0070t0001g0012
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.2031+155_2032-230d
others(2): Show 
c.2031+155_2032-230del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490468
chr21:45490472 C
C
 CCCTGGGC
others(49): Show 
CCCTGGGCCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTGCCCTC
GTGGGTT
 6 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(3): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0018c0095t0001g0146
 6 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(3): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.2031+137_2031+138i
others(58): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTCCCTGGGCCTCC
ATGTGCCCTCGTGGGTTCCTGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490472
chr21:45490472 C
C
 CCCTGGGC
others(21): Show 
CCCTGGGCCTCCATGTGCCCTCGTGGGTT
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2031+137_2031+138i
others(30): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTTCCTGGGCCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490472
chr21:45490472 C
C
 T
T
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+126C>T
c.2031+126C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490472
chr21:45490482 C
C
 CCATGTGC
others(135): Show 
CCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCT
GGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCTC
AGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTT
 2 a0011c0040t0001g0076
a0011c0104t0002g0003
a0011c0040t0001g0076
a0011c0104t0002g0003
 2 HG02572.hp2
HG02717.hp2
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.2031+137_2031+138i
others(144): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTCCCTGGGCCTCC
ATGTGCCCTCGTGGGTTCCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCT
GGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGG
GTCCCTGGGCCTTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490482
chr21:45490482 C
C
 CCATGTGC
others(163): Show 
CCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCT
GGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGTGCCCACTCCC
GGGTCTCTGGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGC
CCTCCCGGGTCCCTGGGCCTT
 17 a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
others(14): Show 
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 17 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(14): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02683.hp1
HG02717.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
 intron_variant MODIFIER c.2031+137_2031+138i
others(172): Show 
c.2031+137_2031+138insATGTGCCCTCGTGGGTCCCTGGGCCTCC
ATGTGCCCTCGTGGGTTCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGG
GCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCTCAG
GTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490482
chr21:45490483 C
C
 CGTGTGCC
others(50): Show 
CGTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGTGTCCCTCCTGGGTCCCT
GGGCCTCT
 1 a0001c0005t0002g0224
a0001c0005t0002g0224
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2031+154_2031+155i
others(59): Show 
c.2031+154_2031+155insCCTGGGCCTCCGTGTGTCCCTCCTGGGT
CCCTGGGCCTCTGTGTGCCCTCCCGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490483
chr21:45490483 C
C
 CGTGTGCC
others(78): Show 
CGTGTGCCCTCCCGGGTCCCTGGGCCTCGGTGTGCCCTCCTGGGTCCCTG
GGCCTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTCT
 45 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(42): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0031c0092t0011g0190
 45 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(42): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02165.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02735.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2031+154_2031+155i
others(87): Show 
c.2031+154_2031+155insCCTGGGCCTCGGTGTGCCCTCCTGGGTC
CCTGGGCCTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTCTGTGTGCCCTC
CCGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490483
chr21:45490484 G
G
 A
A
 18 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0157
others(15): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0037t0001g0157
a0001c0069t0005g0038
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0003c0009t0001g0167
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0021c0086t0002g0176
a0032c0052t0002g0077
 18 HG00140.hp2
HG01074.hp2
HG01081.hp1
others(15): Show 
HG00140.hp2
HG01074.hp2
HG01081.hp1
HG01258.hp2
HG01346.hp2
HG02109.hp2
HG02257.hp2
HG02630.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03579.hp1
HG03710.hp2
HG04115.hp1
NA18906.hp1
NA19043.hp1
NA20905.hp2
 intron_variant MODIFIER c.2031+138G>A
c.2031+138G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490484
chr21:45490490 C
C
 CCA
CCA
 16 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(13): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0084t0002g0212
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
 16 HG00639.hp2
HG01070.hp2
HG01123.hp1
others(13): Show 
HG00639.hp2
HG01070.hp2
HG01123.hp1
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03831.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA19240.hp2
 intron_variant MODIFIER c.2031+145_2031+146i
others(4): Show 
c.2031+145_2031+146insAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490490
chr21:45490490 C
C
 CCTCCCGG
others(108): Show 
CCTCCCGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCC
ATGTGCCCTCGTGGGTTCCTGGGTCTCCGTGTGTCCCTCCTGGGTCCCTG
GGCCTCCGTGTGCCCA
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2031+154_2031+155i
others(117): Show 
c.2031+154_2031+155insCCTGGGCCTCCATGTGCCCTCGTGGGTC
CCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGTCTCCGTGTGTCCCTC
CTGGGTCCCTGGGCCTCCGTGTGCCCACTCCCGGGTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490490
chr21:45490490 C
C
 CCTCCCGG
others(23): Show 
CCTCCCGGGTCTCTGGGCCTCCGTGTGCCCA
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2031+174_2031+203d
others(32): Show 
c.2031+174_2031+203dupACTCCCGGGTCTCTGGGCCTCCGTGTGC
CC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490490
chr21:45490490 C
C
 CCTCGTGG
others(384): Show 
CCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGCCTCC
GTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCT
GGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGG
GTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCC
ACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCC
TCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTCCAT
GTGCCCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGT
CTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTCCGTGTGCCCA
 1 a0003c0009t0001g0167
a0003c0009t0001g0167
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2031+147_2031+148i
others(393): Show 
c.2031+147_2031+148insGTGGGTCCCTGGGCCTCCATGTGCCCTC
GTGGGTTCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTCCGTGT
GCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTCTCAGGTCCCTGGGC
CTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCT
CTGGGCCTCCGTGTGCCCACTCCCGGGTCTCTGGGCCTCCGTGTGCCCTC
CTGGGTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCC
GGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTCCCTGGGCCTCCATGTGC
CCTCGTGGGTTCCTGGGTCTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTC
CGTGTGCCCACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490490
chr21:45490490 C
C
 CCTCGTGG
others(80): Show 
CCTCGTGGGTCCCTGGGCCTCCATGTGCCCTCGTGGGTTCCTGGGTCTCC
GTGTGTCCCTCCTGGGTCCCTGGGCCTCCGTGTGCCCA
 8 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
others(5): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0021c0086t0002g0176
 8 HG01074.hp2
HG01081.hp1
HG02965.hp1
others(5): Show 
HG01074.hp2
HG01081.hp1
HG02965.hp1
HG03041.hp1
HG03710.hp2
HG04115.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.2031+147_2031+148i
others(89): Show 
c.2031+147_2031+148insGTGGGTCCCTGGGCCTCCATGTGCCCTC
GTGGGTTCCTGGGTCTCCGTGTGTCCCTCCTGGGTCCCTGGGCCTCCGTG
TGCCCACTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490490
chr21:45490494 C
C
 G
G
 5 a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
others(2): Show 
a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.2031+148C>G
c.2031+148C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490494
chr21:45490495 C
C
 T
T
 5 a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
others(2): Show 
a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.2031+149C>T
c.2031+149C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490495
chr21:45490496 G
G
 A
A
 24 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(21): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 24 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(21): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
 intron_variant MODIFIER c.2031+150G>A
c.2031+150G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490496
chr21:45490500 C
C
 T
T
 5 a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
others(2): Show 
a0001c0037t0001g0157
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
 intron_variant MODIFIER c.2031+154C>T
c.2031+154C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490500
chr21:45490501 T
T
 C
C
 58 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(55): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 58 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(55): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2031+155T>C
c.2031+155T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490501
chr21:45490509 T
T
 C
C
 1 a0001c0002t0002g0236
a0001c0002t0002g0236
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.2031+163T>C
c.2031+163T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490509
chr21:45490512 G
G
 A
A
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.2031+166G>A
c.2031+166G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490512
chr21:45490518 CCA
CCA
 C
C
 4 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
others(1): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0032c0052t0002g0077
 4 HG00140.hp2
HG01258.hp2
HG01346.hp2
others(1): Show 
HG00140.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+174_2031+175d
others(4): Show 
c.2031+174_2031+175delAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490518
chr21:45490525 C
C
 T
T
 2 a0009c0016t0002g0252
a0025c0050t0002g0108
a0009c0016t0002g0252
a0025c0050t0002g0108
 2 HG03654.hp1
HG04184.hp1
HG03654.hp1
HG04184.hp1
 intron_variant MODIFIER c.2031+179C>T
c.2031+179C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490525
chr21:45490531 T
T
 C
C
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+185T>C
c.2031+185T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490531
chr21:45490537 CCTCCGTG
others(13): Show 
CCTCCGTGTGCCCTCCTGGGT
 C
C
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2031+206_2031+225d
others(22): Show 
c.2031+206_2031+225delCTGGGTCTCCGTGTGCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490537
chr21:45490542 G
G
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+196G>A
c.2031+196G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490542
chr21:45490550 T
T
 A
A
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+204T>A
c.2031+204T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490550
chr21:45490551 C
C
 CTCCCGGG
others(3): Show 
CTCCCGGGTCT
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+205_2031+206i
others(12): Show 
c.2031+205_2031+206insTCCCGGGTCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490551
chr21:45490557 T
T
 C
C
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+211T>C
c.2031+211T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490557
chr21:45490557 TCTCCGTG
others(21): Show 
TCTCCGTGTGCCCTCTCAGGTCCCTGGGC
 T
T
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.2031+226_2032-237d
others(30): Show 
c.2031+226_2032-237delTCAGGTCCCTGGGCCTCCGTGTGCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490557
chr21:45490570 TCTCAGGT
others(1): Show 
TCTCAGGTC
 T
T
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+226_2031+233d
others(10): Show 
c.2031+226_2031+233delTCAGGTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490570
chr21:45490579 C
C
 CCTGGGCC
others(49): Show 
CCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCC
CAGGTCT
 3 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
 3 HG03209.hp2
HG03471.hp2
NA18906.hp2
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2032-238_2032-183d
others(58): Show 
c.2032-238_2032-183dupTCCCGGGTCCCTGGGCCTTCGTGTGCCC
TCCCAGGTCTCTGGGCCTCCGTGTGCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490579
chr21:45490585 C
C
 T
T
 3 a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
a0001c0003t0001g0110
a0001c0003t0001g0287
a0013c0051t0001g0195
 3 HG01258.hp2
HG01346.hp2
HG02257.hp2
HG01258.hp2
HG01346.hp2
HG02257.hp2
 intron_variant MODIFIER c.2031+239C>T
c.2031+239C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490585
chr21:45490588 C
C
 CCGTGTGC
others(49): Show 
CCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCT
GGGCCTG
 2 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0038t0004g0028
a0001c0038t0004g0029
 2 HG02572.hp1
HG02622.hp1
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.2032-193_2032-192i
others(58): Show 
c.2032-193_2032-192insGCGTGTGCCCTCCCGGGTCCCTGGGCCT
TCGTGTGCCCTCCCAGGTCTCTGGGCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490588
chr21:45490589 C
C
 T
T
 8 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(5): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0063t0001g0144
a0005c0060t0001g0063
 8 HG01243.hp1
HG02145.hp2
HG02258.hp1
others(5): Show 
HG01243.hp1
HG02145.hp2
HG02258.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG03209.hp1
HG06807.hp1
 intron_variant MODIFIER c.2031+243C>T
c.2031+243C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490589
chr21:45490600 C
C
 T
T
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2032-236C>T
c.2032-236C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490600
chr21:45490602 G
G
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2032-234G>A
c.2032-234G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490602
chr21:45490614 C
C
 G
G
 1 a0001c0006t0003g0204
a0001c0006t0003g0204
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.2032-222C>G
c.2032-222C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490614
chr21:45490616 T
T
 C
C
 4 a0001c0098t0001g0007
a0013c0051t0001g0195
a0036c0048t0004g0184
others(1): Show 
a0001c0098t0001g0007
a0013c0051t0001g0195
a0036c0048t0004g0184
a0037c0049t0004g0183
 4 HG02257.hp2
HG02451.hp2
HG02809.hp1
others(1): Show 
HG02257.hp2
HG02451.hp2
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2032-220T>C
c.2032-220T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490616
chr21:45490617 C
C
 T
T
 1 a0003c0009t0001g0167
a0003c0009t0001g0167
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2032-219C>T
c.2032-219C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490617
chr21:45490624 C
C
 CCA
CCA
 3 a0001c0098t0001g0007
a0036c0048t0004g0184
a0037c0049t0004g0183
a0001c0098t0001g0007
a0036c0048t0004g0184
a0037c0049t0004g0183
 3 HG02451.hp2
HG02809.hp1
HG02886.hp1
HG02451.hp2
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2032-211_2032-210i
others(4): Show 
c.2032-211_2032-210insAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490624
chr21:45490630 A
A
 G
G
 4 a0001c0098t0001g0007
a0013c0051t0001g0195
a0036c0048t0004g0184
others(1): Show 
a0001c0098t0001g0007
a0013c0051t0001g0195
a0036c0048t0004g0184
a0037c0049t0004g0183
 4 HG02257.hp2
HG02451.hp2
HG02809.hp1
others(1): Show 
HG02257.hp2
HG02451.hp2
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2032-206A>G
c.2032-206A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490630
chr21:45490635 T
T
 C
C
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2032-201T>C
c.2032-201T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490635
chr21:45490637 TGGGCCTC
others(16): Show 
TGGGCCTCCGTGTGCCCACTCCCG
 T
T
 2 a0036c0048t0004g0184
a0037c0049t0004g0183
a0036c0048t0004g0184
a0037c0049t0004g0183
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2032-197_2032-175d
others(25): Show 
c.2032-197_2032-175delGGCCTCCGTGTGCCCACTCCCGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490637
chr21:45490654 A
A
 G
G
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2032-182A>G
c.2032-182A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490654
chr21:45490657 C
C
 A
A
 14 a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
others(11): Show 
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 14 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(11): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
 intron_variant MODIFIER c.2032-179C>A
c.2032-179C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490657
chr21:45490660 G
G
 GGGTCTCT
GGGTCTCT
 99 a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
others(96): Show 
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0003g0211
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0029c0071t0002g0134
a0032c0052t0002g0077
 99 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(96): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp2
HG01943.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18944.hp1
NA18954.hp1
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2032-175_2032-174i
others(9): Show 
c.2032-175_2032-174insGTCTCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490660
chr21:45490660 G
G
 GGGTCTCT
others(134): Show 
GGGTCTCTGGGCCTCCGTGTGCCCTCCTGGGTCTCCGTGTGCCCTCTCAG
GTCCCTGGGCCTCCGTGTGCCCTCCCGGGTCCCTGGGCCTTCGTGTGCCC
TCCCAGGTCTCTGGGCCTCCGTGTGCCCACTCCCGGGTCTCT
 6 a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
others(3): Show 
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 6 HG00597.hp1
HG02132.hp1
NA18747.hp2
others(3): Show 
HG00597.hp1
HG02132.hp1
NA18747.hp2
NA18964.hp1
NA18998.hp2
NA19060.hp2
 intron_variant MODIFIER c.2032-175_2032-174i
others(143): Show 
c.2032-175_2032-174insGTCTCTGGGCCTCCGTGTGCCCTCCTGG
GTCTCCGTGTGCCCTCTCAGGTCCCTGGGCCTCCGTGTGCCCTCCCGGGT
CCCTGGGCCTTCGTGTGCCCTCCCAGGTCTCTGGGCCTCCGTGTGCCCAC
TCCCGGGTCTCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490660
chr21:45490729 C
C
 T
T
 22 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
others(19): Show 
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0167
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
 22 HG00639.hp2
HG01074.hp2
HG01081.hp1
others(19): Show 
HG00639.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01243.hp1
HG02258.hp1
HG02723.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03654.hp1
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.2032-107C>T
c.2032-107C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490729
chr21:45490740 TAAAG
TAAAG
 T
T
 39 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0005t0003g0211
others(36): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0005t0003g0211
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0069t0005g0038
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 39 HG00099.hp1
HG00544.hp1
HG00597.hp1
others(36): Show 
HG00099.hp1
HG00544.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG01192.hp2
HG01258.hp2
HG01346.hp2
HG01978.hp2
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02735.hp1
HG02895.hp1
HG02922.hp2
HG02970.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
HG03927.hp2
HG04228.hp1
NA18747.hp2
NA18944.hp1
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18998.hp2
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19060.hp2
NA19088.hp2
 intron_variant MODIFIER c.2032-93_2032-90del
others(4): Show 
c.2032-93_2032-90delAGAA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 INFO_REALIGN_3_PRIME chr21 45490740
chr21:45490827 T
T
 A
A
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2032-9T>A
c.2032-9T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 20/41 chr21 45490827
chr21:45490909 C
C
 T
T
 2 a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0079t0001g0042
a0001c0080t0004g0057
 2 HG02970.hp1
HG03471.hp1
HG02970.hp1
HG03471.hp1
 intron_variant MODIFIER c.2067+38C>T
c.2067+38C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 21/41 chr21 45490909
chr21:45490910 G
G
 A
A
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.2067+39G>A
c.2067+39G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 21/41 chr21 45490910
chr21:45490935 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2067+64C>T
c.2067+64C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 21/41 chr21 45490935
chr21:45491109 C
C
 T
T
 1 a0001c0004t0001g0225
a0001c0004t0001g0225
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.2068-116C>T
c.2068-116C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 21/41 chr21 45491109
chr21:45491123 C
C
 G
G
 1 a0001c0080t0004g0057
a0001c0080t0004g0057
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2068-102C>G
c.2068-102C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 21/41 chr21 45491123
chr21:45491202 G
G
 A
A
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.2068-23G>A
c.2068-23G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 21/41 chr21 45491202
chr21:45491328 G
G
 A
A
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2157+14G>A
c.2157+14G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491328
chr21:45491354 C
C
 T
T
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2157+40C>T
c.2157+40C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491354
chr21:45491362 G
G
 T
T
 150 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0125
others(147): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0253
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0050
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 150 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(147): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2157+48G>T
c.2157+48G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491362
chr21:45491379 C
C
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.2157+65C>T
c.2157+65C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491379
chr21:45491385 G
G
 GC
GC
 134 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0125
others(131): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0253
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0002t0002g0107
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0073t0003g0034
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0002c0021t0002g0001
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0025c0050t0002g0108
a0026c0044t0001g0037
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 134 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(131): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18966.hp1
NA18969.hp1
NA18977.hp2
NA18990.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2157+79dupC
c.2157+79dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491385
chr21:45491393 C
C
 CA
CA
 18 a0001c0001t0001g0192
a0001c0001t0001g0203
a0002c0012t0004g0040
others(15): Show 
a0001c0001t0001g0192
a0001c0001t0001g0203
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 18 HG00639.hp2
HG01074.hp2
HG01081.hp1
others(15): Show 
HG00639.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01515.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2157+80dupA
c.2157+80dupA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491393
chr21:45491460 G
G
 A
A
 12 a0001c0001t0001g0192
a0002c0012t0004g0058
a0002c0020t0003g0156
others(9): Show 
a0001c0001t0001g0192
a0002c0012t0004g0058
a0002c0020t0003g0156
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 12 HG00639.hp2
HG01167.hp1
HG02559.hp2
others(9): Show 
HG00639.hp2
HG01167.hp1
HG02559.hp2
HG02895.hp2
HG03041.hp1
HG03239.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2157+146G>A
c.2157+146G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491460
chr21:45491465 G
G
 GTAGAGGC
others(9): Show 
GTAGAGGCCCTCGGTCA
 179 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(176): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0023
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0048
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0291
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0017
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0003c0009t0001g0054
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0015c0029t0003g0226
a0015c0029t0003g0227
a0019c0096t0015g0045
a0020c0094t0011g0075
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 179 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(176): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18944.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.2157+151_2157+152i
others(18): Show 
c.2157+151_2157+152insTAGAGGCCCTCGGTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491465
chr21:45491465 G
G
 GTAGAGGC
others(25): Show 
GTAGAGGCCCTCGGTCAGAGACGCCCTCGGTCA
 3 a0001c0002t0003g0143
a0001c0003t0001g0005
a0001c0053t0001g0244
a0001c0002t0003g0143
a0001c0003t0001g0005
a0001c0053t0001g0244
 3 HG00609.hp2
HG02055.hp2
NA18953.hp2
HG00609.hp2
HG02055.hp2
NA18953.hp2
 intron_variant MODIFIER c.2157+151_2157+152i
others(34): Show 
c.2157+151_2157+152insTAGAGGCCCTCGGTCAGAGACGCCCTCG
GTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491465
chr21:45491465 G
G
 GTAGAGGC
others(41): Show 
GTAGAGGCCCTCGGTCAGAGACGCCCTCGGTCAGAGACGCCCTCGGTCA
 1 a0001c0001t0001g0266
a0001c0001t0001g0266
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.2157+151_2157+152i
others(50): Show 
c.2157+151_2157+152insTAGAGGCCCTCGGTCAGAGACGCCCTCG
GTCAGAGACGCCCTCGGTCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491465
chr21:45491466 C
C
 CAGACGCC
others(9): Show 
CAGACGCCCTCGGTCAG
 13 a0001c0001t0001g0120
a0001c0011t0001g0009
a0001c0011t0001g0016
others(10): Show 
a0001c0001t0001g0120
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0050
a0002c0020t0001g0010
a0002c0020t0001g0011
a0003c0046t0001g0002
a0004c0100t0001g0039
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0026c0044t0001g0037
 13 HG00733.hp2
HG01074.hp2
HG01081.hp1
others(10): Show 
HG00733.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp1
NA18522.hp2
 intron_variant MODIFIER c.2157+160_2157+175d
others(18): Show 
c.2157+160_2157+175dupCTCGGTCAGAGACGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491466
chr21:45491466 C
C
 CAGACGCC
others(25): Show 
CAGACGCCCTCGGTCAGAGACGCCCTCGGTCAG
 34 a0001c0001t0001g0125
a0001c0001t0001g0277
a0001c0003t0001g0043
others(31): Show 
a0001c0001t0001g0125
a0001c0001t0001g0277
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0005t0006g0218
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0089t0001g0119
a0006c0026t0003g0219
a0016c0042t0001g0118
a0036c0048t0004g0184
a0037c0049t0004g0183
 34 HG00099.hp2
HG00438.hp1
HG00597.hp2
others(31): Show 
HG00099.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02155.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02809.hp1
HG02886.hp1
HG03017.hp1
NA18612.hp2
NA18945.hp1
NA18945.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2157+175_2157+176i
others(34): Show 
c.2157+175_2157+176insCTCGGTCAGAGACGCCCTCGGTCAGAGA
CGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491466
chr21:45491466 C
C
 CAGACGCC
others(57): Show 
CAGACGCCCTCGGTCAGAGACGCCCTCGGTCAGAGACGCCCTCGGTCAGA
GACGCCCTCGGTCAG
 3 a0001c0007t0002g0078
a0006c0026t0001g0083
a0032c0052t0002g0077
a0001c0007t0002g0078
a0006c0026t0001g0083
a0032c0052t0002g0077
 3 HG00140.hp2
HG03017.hp2
HG04204.hp2
HG00140.hp2
HG03017.hp2
HG04204.hp2
 intron_variant MODIFIER c.2157+175_2157+176i
others(66): Show 
c.2157+175_2157+176insCTCGGTCAGAGACGCCCTCGGTCAGAGA
CGCCCTCGGTCAGAGACGCCCTCGGTCAGAGACGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491466
chr21:45491466 C
C
 CAGAGGCC
others(9): Show 
CAGAGGCCCTCGGTCAG
 11 a0001c0001t0001g0192
a0002c0012t0004g0058
a0002c0020t0003g0156
others(8): Show 
a0001c0001t0001g0192
a0002c0012t0004g0058
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0103t0001g0136
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 11 HG00639.hp2
HG01167.hp1
HG02559.hp2
others(8): Show 
HG00639.hp2
HG01167.hp1
HG02559.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03710.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2157+155_2157+156i
others(18): Show 
c.2157+155_2157+156insGGCCCTCGGTCAGAGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491466
chr21:45491466 C
C
 CAGAGGCC
others(25): Show 
CAGAGGCCCTCGGTCAGAGACGCCCTCGGTCAG
 2 a0002c0084t0002g0212
a0021c0086t0002g0176
a0002c0084t0002g0212
a0021c0086t0002g0176
 2 HG03831.hp1
HG04115.hp1
HG03831.hp1
HG04115.hp1
 intron_variant MODIFIER c.2157+155_2157+156i
others(34): Show 
c.2157+155_2157+156insGGCCCTCGGTCAGAGACGCCCTCGGTCA
GAGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491466
chr21:45491466 C
C
 G
G
 183 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(180): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0002g0023
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0291
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0017
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0003c0009t0001g0054
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0015c0029t0003g0226
a0015c0029t0003g0227
a0019c0096t0015g0045
a0020c0094t0011g0075
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 183 HG00099.hp1
HG00140.hp1
HG00280.hp1
others(180): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp2
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18944.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18966.hp1
NA18966.hp2
NA18975.hp2
NA18977.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19012.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.2157+152C>G
c.2157+152C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491466
chr21:45491466 C
C
 T
T
 28 a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0246
others(25): Show 
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0004g0223
a0001c0002t0001g0095
a0001c0002t0002g0047
a0001c0002t0002g0094
a0001c0002t0002g0114
a0001c0002t0002g0140
a0001c0002t0002g0231
a0001c0002t0002g0283
a0001c0004t0001g0271
a0001c0005t0002g0280
a0001c0006t0003g0259
a0001c0017t0002g0179
a0001c0062t0002g0097
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0005c0036t0001g0292
a0017c0043t0002g0015
a0018c0095t0001g0146
 28 HG00280.hp2
HG00423.hp1
HG00423.hp2
others(25): Show 
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00621.hp1
HG00733.hp1
HG00738.hp2
HG01255.hp2
HG01943.hp2
HG02132.hp2
HG02698.hp1
HG02735.hp2
HG02970.hp1
HG03471.hp1
HG03540.hp1
HG03704.hp2
HG03927.hp1
NA18952.hp2
NA18964.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18999.hp1
NA19043.hp2
NA19070.hp2
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.2157+152C>T
c.2157+152C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491466
chr21:45491470 C
C
 CGCCCTCG
others(25): Show 
CGCCCTCGGTCAGAGACGCCCTCGGTCAGAGAT
 2 a0001c0003t0001g0193
a0001c0007t0002g0194
a0001c0003t0001g0193
a0001c0007t0002g0194
 2 HG02055.hp1
HG03195.hp2
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.2157+175_2157+176i
others(34): Show 
c.2157+175_2157+176insCTCGGTCAGAGATGCCCTCGGTCAGAGA
CGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491470
chr21:45491470 C
C
 G
G
 12 a0001c0001t0001g0253
a0001c0002t0002g0094
a0001c0004t0001g0271
others(9): Show 
a0001c0001t0001g0253
a0001c0002t0002g0094
a0001c0004t0001g0271
a0001c0005t0002g0280
a0001c0062t0002g0097
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0005c0036t0001g0292
a0017c0043t0002g0015
a0018c0095t0001g0146
 12 HG00423.hp1
HG00423.hp2
HG02698.hp1
others(9): Show 
HG00423.hp1
HG00423.hp2
HG02698.hp1
HG03927.hp1
NA18964.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18990.hp1
NA18999.hp1
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.2157+156C>G
c.2157+156C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491470
chr21:45491470 C
C
 GGCCCTCG
others(9): Show 
GGCCCTCGGTCAGAGAC
 16 a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0246
others(13): Show 
a0001c0001t0001g0093
a0001c0001t0001g0127
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0001t0004g0223
a0001c0002t0001g0095
a0001c0002t0002g0047
a0001c0002t0002g0114
a0001c0002t0002g0140
a0001c0002t0002g0231
a0001c0002t0002g0283
a0001c0006t0003g0259
a0001c0017t0002g0179
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
 16 HG00280.hp2
HG00621.hp1
HG00733.hp1
others(13): Show 
HG00280.hp2
HG00621.hp1
HG00733.hp1
HG00738.hp2
HG01255.hp2
HG01943.hp2
HG02132.hp2
HG02735.hp2
HG02970.hp1
HG03471.hp1
HG03540.hp1
HG03704.hp2
NA18952.hp2
NA18983.hp2
NA19043.hp2
NA19070.hp2
 intron_variant MODIFIER c.2157+155_2157+156i
others(18): Show 
c.2157+155_2157+156insGGCCCTCGGTCAGAGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491470
chr21:45491476 C
C
 CGGTCAGA
others(9): Show 
CGGTCAGAGACGCCCTT
 7 a0001c0001t0001g0253
a0001c0002t0002g0094
a0001c0004t0001g0271
others(4): Show 
a0001c0001t0001g0253
a0001c0002t0002g0094
a0001c0004t0001g0271
a0001c0005t0002g0280
a0001c0062t0002g0097
a0005c0036t0001g0292
a0017c0043t0002g0015
 7 HG00423.hp1
HG00423.hp2
HG02698.hp1
others(4): Show 
HG00423.hp1
HG00423.hp2
HG02698.hp1
HG03927.hp1
NA18977.hp1
NA18990.hp1
NA19091.hp1
 intron_variant MODIFIER c.2157+175_2157+176i
others(18): Show 
c.2157+175_2157+176insCTTGGTCAGAGACGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 INFO_REALIGN_3_PRIME chr21 45491476
chr21:45491476 C
C
 T
T
 49 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
others(46): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0011t0001g0017
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0090t0002g0089
a0002c0021t0002g0001
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0245
a0007c0031t0002g0123
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 49 HG00408.hp2
HG00438.hp2
HG00544.hp2
others(46): Show 
HG00408.hp2
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG01070.hp2
HG01123.hp1
HG01346.hp1
HG01496.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03130.hp1
HG03225.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18966.hp2
NA18977.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19070.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2157+162C>T
c.2157+162C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491476
chr21:45491554 A
A
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2157+240A>C
c.2157+240A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491554
chr21:45491594 G
G
 C
C
 18 a0001c0001t0001g0192
a0002c0012t0004g0040
a0002c0012t0004g0049
others(15): Show 
a0001c0001t0001g0192
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 18 HG00639.hp2
HG01074.hp2
HG01081.hp1
others(15): Show 
HG00639.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG02559.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG03831.hp1
HG04115.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2157+280G>C
c.2157+280G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491594
chr21:45491653 A
A
 C
C
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.2157+339A>C
c.2157+339A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491653
chr21:45491703 C
C
 T
T
 1 a0001c0003t0001g0145
a0001c0003t0001g0145
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2157+389C>T
c.2157+389C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491703
chr21:45491821 C
C
 T
T
 2 a0001c0004t0001g0090
a0001c0090t0002g0089
a0001c0004t0001g0090
a0001c0090t0002g0089
 2 HG02698.hp2
NA20129.hp2
HG02698.hp2
NA20129.hp2
 intron_variant MODIFIER c.2157+507C>T
c.2157+507C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491821
chr21:45491822 G
G
 A
A
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.2157+508G>A
c.2157+508G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491822
chr21:45491829 C
C
 T
T
 2 a0001c0001t0001g0099
a0001c0002t0002g0088
a0001c0001t0001g0099
a0001c0002t0002g0088
 2 HG01074.hp1
HG01517.hp2
HG01074.hp1
HG01517.hp2
 intron_variant MODIFIER c.2157+515C>T
c.2157+515C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491829
chr21:45491937 CAGAG
CAGAG
 C
C
 90 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(87): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0081
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0029
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0098t0001g0007
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 90 HG00423.hp1
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00733.hp2
HG01070.hp2
HG01123.hp1
HG01123.hp2
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18999.hp1
NA19005.hp2
NA19007.hp2
NA19010.hp2
NA19057.hp2
NA19060.hp1
NA19070.hp1
NA19074.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2158-597_2158-594d
others(6): Show 
c.2158-597_2158-594delAGAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45491937
chr21:45492095 G
G
 A
A
 1 a0001c0007t0002g0208
a0001c0007t0002g0208
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2158-440G>A
c.2158-440G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492095
chr21:45492121 C
C
 T
T
 1 a0001c0001t0001g0128
a0001c0001t0001g0128
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.2158-414C>T
c.2158-414C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492121
chr21:45492130 G
G
 A
A
 1 a0001c0081t0003g0154
a0001c0081t0003g0154
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.2158-405G>A
c.2158-405G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492130
chr21:45492160 G
G
 A
A
 13 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(10): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 13 HG00639.hp2
HG01167.hp1
HG02280.hp2
others(10): Show 
HG00639.hp2
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG04115.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2158-375G>A
c.2158-375G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492160
chr21:45492196 C
C
 T
T
 1 a0001c0002t0002g0117
a0001c0002t0002g0117
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.2158-339C>T
c.2158-339C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492196
chr21:45492239 T
T
 C
C
 2 a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0055t0003g0152
 2 NA18953.hp2
NA19012.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.2158-296T>C
c.2158-296T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492239
chr21:45492248 CCACCTCC
others(62): Show 
CCACCTCCGCCGGCAAGCAAGGGAGCGTCTAGCAGAGGCAGGAGCATTTT
AAAACAAAATGGAAGTAAAA
 C
C
 1 a0001c0003t0001g0193
a0001c0003t0001g0193
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2158-286_2158-218d
others(71): Show 
c.2158-286_2158-218delCACCTCCGCCGGCAAGCAAGGGAGCGTC
TAGCAGAGGCAGGAGCATTTTAAAACAAAATGGAAGTAAAA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492248
chr21:45492258 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2158-277C>T
c.2158-277C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492258
chr21:45492364 C
C
 G
G
 1 a0030c0056t0001g0044
a0030c0056t0001g0044
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2158-171C>G
c.2158-171C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492364
chr21:45492472 C
C
 T
T
 47 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(44): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0053t0001g0244
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 47 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(44): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2158-63C>T
c.2158-63C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 22/41 chr21 45492472
chr21:45492744 G
G
 GCCCGCCA
others(7): Show 
GCCCGCCACTGCCCT
 157 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(154): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 157 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(154): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2214+35_2214+36ins
others(14): Show 
c.2214+35_2214+36insCCACTGCCCTCCCG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 INFO_REALIGN_3_PRIME chr21 45492744
chr21:45492972 G
G
 A
A
 59 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(56): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 59 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(56): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2215-191G>A
c.2215-191G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45492972
chr21:45493021 T
T
 C
C
 109 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(106): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 109 HG00423.hp1
HG00438.hp2
HG00544.hp1
others(106): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2215-142T>C
c.2215-142T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45493021
chr21:45493033 C
C
 T
T
 43 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(40): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 43 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(40): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2215-130C>T
c.2215-130C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45493033
chr21:45493050 G
G
 A
A
 1 a0001c0017t0003g0205
a0001c0017t0003g0205
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.2215-113G>A
c.2215-113G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45493050
chr21:45493054 T
T
 C
C
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.2215-109T>C
c.2215-109T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45493054
chr21:45493056 T
T
 A
A
 136 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(133): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 136 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(133): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2215-107T>A
c.2215-107T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45493056
chr21:45493078 GGCAGCTG
others(14): Show 
GGCAGCTGTCGGGGGAGATGGA
 G
G
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2215-79_2215-59del
others(21): Show 
c.2215-79_2215-59delTGTCGGGGGAGATGGAGCAGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 INFO_REALIGN_3_PRIME chr21 45493078
chr21:45493131 G
G
 T
T
 2 a0003c0046t0001g0002
a0026c0044t0001g0037
a0003c0046t0001g0002
a0026c0044t0001g0037
 2 HG00733.hp2
HG02922.hp2
HG00733.hp2
HG02922.hp2
 intron_variant MODIFIER c.2215-32G>T
c.2215-32G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 24/41 chr21 45493131
chr21:45493239 G
G
 T
T
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.2277+14G>T
c.2277+14G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 25/41 chr21 45493239
chr21:45493272 G
G
 C
C
 21 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(18): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2277+47G>C
c.2277+47G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 25/41 chr21 45493272
chr21:45493318 C
C
 A
A
 1 a0001c0006t0003g0259
a0001c0006t0003g0259
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.2277+93C>A
c.2277+93C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 25/41 chr21 45493318
chr21:45493386 G
G
 A
A
 43 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(40): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 43 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(40): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2278-115G>A
c.2278-115G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 25/41 chr21 45493386
chr21:45493396 C
C
 G
G
 77 a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
others(74): Show 
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
 77 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(74): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2278-105C>G
c.2278-105C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 25/41 chr21 45493396
chr21:45493403 G
G
 T
T
 1 a0001c0003t0001g0101
a0001c0003t0001g0101
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.2278-98G>T
c.2278-98G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 25/41 chr21 45493403
chr21:45493600 G
G
 A
A
 21 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(18): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 21 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(18): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18944.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2352+25G>A
c.2352+25G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493600
chr21:45493603 A
A
 G
G
 153 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(150): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0074t0004g0200
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 153 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(150): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2352+28A>G
c.2352+28A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493603
chr21:45493624 T
T
 C
C
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2352+49T>C
c.2352+49T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493624
chr21:45493659 C
C
 T
T
 4 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(1): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 4 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(1): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.2352+84C>T
c.2352+84C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493659
chr21:45493697 T
T
 C
C
 45 a0001c0001t0001g0025
a0001c0003t0001g0005
a0001c0003t0001g0043
others(42): Show 
a0001c0001t0001g0025
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 45 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(42): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp2
HG03453.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2352+122T>C
c.2352+122T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493697
chr21:45493728 C
C
 T
T
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
 5 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2352+153C>T
c.2352+153C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493728
chr21:45493735 G
G
 A
A
 1 a0001c0003t0001g0289
a0001c0003t0001g0289
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.2352+160G>A
c.2352+160G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493735
chr21:45493745 C
C
 G
G
 2 a0001c0017t0002g0179
a0006c0028t0003g0230
a0001c0017t0002g0179
a0006c0028t0003g0230
 2 HG00733.hp1
HG03239.hp2
HG00733.hp1
HG03239.hp2
 intron_variant MODIFIER c.2352+170C>G
c.2352+170C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493745
chr21:45493754 C
C
 T
T
 4 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
others(1): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
 4 HG02280.hp2
HG02622.hp2
HG02886.hp2
others(1): Show 
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.2352+179C>T
c.2352+179C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493754
chr21:45493973 G
G
 A
A
 1 a0018c0095t0001g0146
a0018c0095t0001g0146
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2352+398G>A
c.2352+398G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45493973
chr21:45494076 G
G
 A
A
 5 a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
others(2): Show 
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0029c0071t0002g0134
 5 HG00099.hp1
HG00642.hp2
HG01192.hp2
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG03927.hp2
 intron_variant MODIFIER c.2353-469G>A
c.2353-469G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494076
chr21:45494125 C
C
 T
T
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2353-420C>T
c.2353-420C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494125
chr21:45494126 G
G
 A
A
 37 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(34): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0016c0042t0001g0118
a0032c0052t0002g0077
 37 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(34): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02602.hp2
HG02818.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2353-419G>A
c.2353-419G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494126
chr21:45494236 T
T
 A
A
 65 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(62): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 65 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(62): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2353-309T>A
c.2353-309T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494236
chr21:45494239 C
C
 T
T
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.2353-306C>T
c.2353-306C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494239
chr21:45494244 G
G
 GCCCTCCA
GCCCTCCA
 154 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(151): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 154 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(151): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2353-283_2353-277d
others(9): Show 
c.2353-283_2353-277dupTCCACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 INFO_REALIGN_3_PRIME chr21 45494244
chr21:45494280 T
T
 C
C
 86 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(83): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0013t0014g0210
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 86 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG01070.hp2
HG01123.hp1
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2353-265T>C
c.2353-265T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494280
chr21:45494284 G
G
 C
C
 1 a0010c0014t0001g0275
a0010c0014t0001g0275
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.2353-261G>C
c.2353-261G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494284
chr21:45494328 G
G
 A
A
 1 a0006c0026t0001g0083
a0006c0026t0001g0083
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.2353-217G>A
c.2353-217G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494328
chr21:45494347 G
G
 A
A
 44 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(41): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0089t0001g0119
a0002c0084t0002g0212
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03831.hp1
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2353-198G>A
c.2353-198G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494347
chr21:45494348 C
C
 T
T
 25 a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
others(22): Show 
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
 25 HG00639.hp2
HG01070.hp2
HG01074.hp2
others(22): Show 
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2353-197C>T
c.2353-197C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494348
chr21:45494349 T
T
 C
C
 64 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(61): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 64 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(61): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2353-196T>C
c.2353-196T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494349
chr21:45494384 C
C
 T
T
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.2353-161C>T
c.2353-161C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494384
chr21:45494448 G
G
 A
A
 1 a0004c0023t0002g0163
a0004c0023t0002g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.2353-97G>A
c.2353-97G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494448
chr21:45494528 C
C
 T
T
 1 a0014c0039t0009g0197
a0014c0039t0009g0197
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.2353-17C>T
c.2353-17C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 26/41 chr21 45494528
chr21:45494662 C
C
 T
T
 60 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(57): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 60 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(57): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01243.hp1
HG01346.hp1
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2379+91C>T
c.2379+91C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 27/41 chr21 45494662
chr21:45494728 A
A
 G
G
 44 a0001c0002t0002g0114
a0001c0003t0001g0005
a0001c0003t0001g0043
others(41): Show 
a0001c0002t0002g0114
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 44 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(41): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01255.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2380-134A>G
c.2380-134A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 27/41 chr21 45494728
chr21:45494817 GGGCCAGG
others(14): Show 
GGGCCAGGGTCTGCCCCACTAA
 G
G
 1 a0001c0002t0002g0107
a0001c0002t0002g0107
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.2380-43_2380-23del
others(21): Show 
c.2380-43_2380-23delGCCAGGGTCTGCCCCACTAAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 27/41 INFO_REALIGN_3_PRIME chr21 45494817
chr21:45494980 C
C
 T
T
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.2433+65C>T
c.2433+65C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45494980
chr21:45494994 A
A
 G
G
 3 a0001c0074t0004g0200
a0004c0100t0001g0039
a0027c0070t0001g0012
a0001c0074t0004g0200
a0004c0100t0001g0039
a0027c0070t0001g0012
 3 HG02257.hp1
HG03098.hp1
HG03540.hp1
HG02257.hp1
HG03098.hp1
HG03540.hp1
 intron_variant MODIFIER c.2433+79A>G
c.2433+79A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45494994
chr21:45495020 C
C
 T
T
 2 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0085
a0001c0003t0001g0086
 2 HG00735.hp2
HG01106.hp1
HG00735.hp2
HG01106.hp1
 intron_variant MODIFIER c.2433+105C>T
c.2433+105C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495020
chr21:45495035 C
C
 T
T
 1 a0001c0064t0001g0061
a0001c0064t0001g0061
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.2433+120C>T
c.2433+120C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495035
chr21:45495060 C
C
 T
T
 1 a0002c0103t0001g0136
a0002c0103t0001g0136
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2433+145C>T
c.2433+145C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495060
chr21:45495098 G
G
 A
A
 1 a0001c0004t0001g0026
a0001c0004t0001g0026
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.2433+183G>A
c.2433+183G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495098
chr21:45495121 G
G
 A
A
 1 a0001c0002t0002g0107
a0001c0002t0002g0107
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.2433+206G>A
c.2433+206G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495121
chr21:45495128 A
A
 G
G
 91 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(88): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 91 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(88): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2433+213A>G
c.2433+213A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495128
chr21:45495179 A
A
 G
G
 1 a0001c0003t0001g0048
a0001c0003t0001g0048
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2434-179A>G
c.2434-179A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495179
chr21:45495241 G
G
 C
C
 20 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(17): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 20 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(17): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2434-117G>C
c.2434-117G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 28/41 chr21 45495241
chr21:45495459 GGTGGCTG
others(121): Show 
GGTGGCTGGGAGACCAGGACCTGGGAATGGCCTGGCCACAGCCTGGGGTC
CTGCAGCTCCTCCCAGAGGCCACTTATAAGCAGCCCTGCCATGTGGCCAC
ACAGCACTGGTCATGCCATACCCATGCAC
 G
G
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2508+28_2508+155de
others(1): Show 
c.2508+28_2508+155del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495459
chr21:45495523 A
A
 G
G
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.2508+91A>G
c.2508+91A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495523
chr21:45495607 C
C
 CACAT
CACAT
 240 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(237): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0260
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 240 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(237): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
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
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
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
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2508+175_2508+176i
others(6): Show 
c.2508+175_2508+176insACAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495607
chr21:45495614 G
G
 A
A
 56 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(53): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 56 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(53): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp2
HG02615.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03486.hp2
HG03540.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18966.hp2
NA18977.hp1
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2508+182G>A
c.2508+182G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495614
chr21:45495645 C
C
 T
T
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2508+213C>T
c.2508+213C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495645
chr21:45495651 C
C
 T
T
 23 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(20): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
 23 HG00639.hp2
HG01070.hp2
HG01074.hp2
others(20): Show 
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2508+219C>T
c.2508+219C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495651
chr21:45495667 T
T
 C
C
 85 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(82): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 85 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(82): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18966.hp2
NA18977.hp1
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2508+235T>C
c.2508+235T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495667
chr21:45495692 A
A
 C
C
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
 5 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2508+260A>C
c.2508+260A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495692
chr21:45495707 C
C
 T
T
 20 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(17): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 20 HG00544.hp1
HG00733.hp2
HG02258.hp2
others(17): Show 
HG00544.hp1
HG00733.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2508+275C>T
c.2508+275C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495707
chr21:45495708 G
G
 A
A
 80 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(77): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
 80 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18966.hp2
NA18977.hp1
NA19005.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.2508+276G>A
c.2508+276G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495708
chr21:45495715 T
T
 TAC
TAC
 155 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(152): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 155 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(152): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2508+286_2508+287d
others(4): Show 
c.2508+286_2508+287dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45495715
chr21:45495718 ACG
ACG
 A
A
 3 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
 3 HG01074.hp2
HG01081.hp1
NA18906.hp1
HG01074.hp2
HG01081.hp1
NA18906.hp1
 intron_variant MODIFIER c.2508+288_2508+289d
others(4): Show 
c.2508+288_2508+289delGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45495718
chr21:45495720 G
G
 A
A
 1 a0001c0005t0002g0224
a0001c0005t0002g0224
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2508+288G>A
c.2508+288G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495720
chr21:45495724 A
A
 G
G
 4 a0001c0003t0001g0289
a0002c0020t0001g0010
a0002c0020t0001g0011
others(1): Show 
a0001c0003t0001g0289
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
 4 HG01074.hp2
HG01081.hp1
HG02135.hp1
others(1): Show 
HG01074.hp2
HG01081.hp1
HG02135.hp1
NA18906.hp1
 intron_variant MODIFIER c.2508+292A>G
c.2508+292A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495724
chr21:45495808 C
C
 T
T
 20 a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
others(17): Show 
a0001c0098t0001g0007
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
 20 HG00639.hp2
HG01070.hp2
HG01074.hp2
others(17): Show 
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG02451.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03654.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2508+376C>T
c.2508+376C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495808
chr21:45495810 A
A
 G
G
 158 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(155): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 158 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(155): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2508+378A>G
c.2508+378A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495810
chr21:45495906 C
C
 CTGGCCCA
others(8): Show 
CTGGCCCATTCCATGA
 1 a0001c0053t0001g0244
a0001c0053t0001g0244
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.2508+478_2508+492d
others(17): Show 
c.2508+478_2508+492dupCCCATTCCATGATGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45495906
chr21:45495952 G
G
 A
A
 1 a0033c0077t0003g0098
a0033c0077t0003g0098
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2508+520G>A
c.2508+520G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495952
chr21:45495963 T
T
 G
G
 1 a0017c0043t0002g0015
a0017c0043t0002g0015
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.2508+531T>G
c.2508+531T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495963
chr21:45495994 A
A
 G
G
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2509-506A>G
c.2509-506A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45495994
chr21:45496036 T
T
 C
C
 155 a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0001t0001g0142
others(152): Show 
a0001c0001t0001g0033
a0001c0001t0001g0126
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 155 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(152): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2509-464T>C
c.2509-464T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45496036
chr21:45496071 C
C
 CATGCCCT
others(11): Show 
CATGCCCTCCATGCCCTCT
 42 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
others(39): Show 
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0087t0001g0055
a0001c0090t0002g0089
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0027c0070t0001g0012
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 42 HG00438.hp2
HG00544.hp2
HG00609.hp1
others(39): Show 
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01981.hp2
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02615.hp2
HG02698.hp2
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp2
HG03688.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18966.hp2
NA18977.hp1
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.2509-411_2509-394d
others(20): Show 
c.2509-411_2509-394dupTATGCCCTCCATGCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45496071
chr21:45496071 CATGCCCT
others(11): Show 
CATGCCCTCCATGCCCTCT
 C
C
 48 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(45): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0005t0002g0217
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
 48 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(45): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02451.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02818.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2509-411_2509-394d
others(20): Show 
c.2509-411_2509-394delTATGCCCTCCATGCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45496071
chr21:45496089 T
T
 TATGCCCT
others(2): Show 
TATGCCCTCC
 3 a0001c0001t0001g0187
a0001c0081t0003g0154
a0019c0096t0015g0045
a0001c0001t0001g0187
a0001c0081t0003g0154
a0019c0096t0015g0045
 3 HG02280.hp1
NA18959.hp1
NA19007.hp1
HG02280.hp1
NA18959.hp1
NA19007.hp1
 intron_variant MODIFIER c.2509-391_2509-383d
others(11): Show 
c.2509-391_2509-383dupTGCCCTCCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45496089
chr21:45496089 TATGCCCT
others(2): Show 
TATGCCCTCC
 T
T
 14 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(11): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0004t0001g0271
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0063t0001g0144
a0005c0060t0001g0063
a0030c0056t0001g0044
 14 HG00423.hp1
HG01243.hp1
HG02145.hp2
others(11): Show 
HG00423.hp1
HG01243.hp1
HG02145.hp2
HG02258.hp1
HG02559.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp2
HG06807.hp1
 intron_variant MODIFIER c.2509-391_2509-383d
others(11): Show 
c.2509-391_2509-383delTGCCCTCCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45496089
chr21:45496113 CTCCAAGC
others(69): Show 
CTCCAAGCCCTCCATGCTGGGGGTTCTCCCGCTCAGCCCAAAGGTGTCCA
CTCTGCTGTCTTTTGAGCCAAGAGCTT
 C
C
 1 a0001c0022t0001g0021
a0001c0022t0001g0021
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2509-385_2509-310d
others(78): Show 
c.2509-385_2509-310delCCAAGCCCTCCATGCTGGGGGTTCTCCC
GCTCAGCCCAAAGGTGTCCACTCTGCTGTCTTTTGAGCCAAGAGCTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 INFO_REALIGN_3_PRIME chr21 45496113
chr21:45496119 G
G
 A
A
 17 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
others(14): Show 
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
 17 HG00639.hp2
HG01074.hp2
HG01081.hp1
others(14): Show 
HG00639.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG02280.hp2
HG02622.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03486.hp1
HG03710.hp2
HG04115.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.2509-381G>A
c.2509-381G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45496119
chr21:45496125 C
C
 T
T
 1 a0008c0101t0005g0027
a0008c0101t0005g0027
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.2509-375C>T
c.2509-375C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45496125
chr21:45496132 G
G
 T
T
 47 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(44): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0005t0002g0217
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
 47 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(44): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02818.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2509-368G>T
c.2509-368G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45496132
chr21:45496290 C
C
 T
T
 3 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
 3 HG03209.hp2
HG03471.hp2
NA18906.hp2
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2509-210C>T
c.2509-210C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45496290
chr21:45496318 G
G
 A
A
 1 a0001c0004t0001g0213
a0001c0004t0001g0213
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2509-182G>A
c.2509-182G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 29/41 chr21 45496318
chr21:45496569 G
G
 A
A
 1 a0001c0008t0002g0268
a0001c0008t0002g0268
 1 HG01496.hp2
HG01496.hp2
 splice_donor_variant&intron_variant HIGH c.2577+1G>A
c.2577+1G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496569
chr21:45496588 A
A
 G
G
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2577+20A>G
c.2577+20A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496588
chr21:45496602 AC
AC
 A
A
 137 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(134): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0001g0080
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 137 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(134): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+37delC
c.2577+37delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 INFO_REALIGN_3_PRIME chr21 45496602
chr21:45496650 C
C
 T
T
 1 a0001c0027t0001g0019
a0001c0027t0001g0019
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2577+82C>T
c.2577+82C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496650
chr21:45496774 C
C
 T
T
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0020c0094t0011g0075
 4 HG02258.hp2
HG02572.hp2
HG02717.hp1
others(1): Show 
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02717.hp2
 intron_variant MODIFIER c.2577+206C>T
c.2577+206C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496774
chr21:45496785 C
C
 G
G
 40 a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0048
others(37): Show 
a0001c0002t0001g0080
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0008g0166
a0001c0004t0001g0174
a0001c0004t0001g0267
a0001c0005t0002g0217
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0032c0052t0002g0077
 40 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(37): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02818.hp1
HG02895.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03579.hp2
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18612.hp2
NA18959.hp2
NA18961.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2577+217C>G
c.2577+217C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496785
chr21:45496823 C
C
 G
G
 19 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(16): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0002c0012t0004g0058
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0083t0001g0237
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
 19 HG00639.hp2
HG01070.hp2
HG01123.hp1
others(16): Show 
HG00639.hp2
HG01070.hp2
HG01123.hp1
HG01167.hp1
HG02486.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03654.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.2578-227C>G
c.2578-227C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496823
chr21:45496861 G
G
 C
C
 9 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(6): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0063t0001g0144
a0005c0060t0001g0063
a0030c0056t0001g0044
 9 HG01243.hp1
HG02145.hp2
HG02809.hp2
others(6): Show 
HG01243.hp1
HG02145.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp2
HG06807.hp1
 intron_variant MODIFIER c.2578-189G>C
c.2578-189G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496861
chr21:45496934 G
G
 C
C
 1 a0001c0024t0001g0229
a0001c0024t0001g0229
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.2578-116G>C
c.2578-116G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496934
chr21:45496983 C
C
 T
T
 1 a0001c0007t0002g0208
a0001c0007t0002g0208
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2578-67C>T
c.2578-67C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45496983
chr21:45497026 G
G
 C
C
 1 a0001c0033t0002g0100
a0001c0033t0002g0100
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2578-24G>C
c.2578-24G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45497026
chr21:45497027 C
C
 G
G
 1 a0001c0033t0002g0100
a0001c0033t0002g0100
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2578-23C>G
c.2578-23C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 30/41 chr21 45497027
chr21:45497121 C
C
 T
T
 24 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(21): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0002t0002g0074
a0001c0002t0002g0102
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0103t0001g0136
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
 24 HG00323.hp1
HG00639.hp2
HG01070.hp2
others(21): Show 
HG00323.hp1
HG00639.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01255.hp1
HG02486.hp2
HG02895.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp1
HG03654.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.2620+29C>T
c.2620+29C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 31/41 chr21 45497121
chr21:45497266 AG
AG
 A
A
 5 a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
others(2): Show 
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0029c0071t0002g0134
 5 HG00099.hp1
HG00642.hp2
HG01192.hp2
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG03927.hp2
 intron_variant MODIFIER c.2620+175delG
c.2620+175delG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 31/41 chr21 45497266
chr21:45497275 G
G
 A
A
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2620+183G>A
c.2620+183G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 31/41 chr21 45497275
chr21:45497394 GGTGTGGC
others(53): Show 
GGTGTGGCCTGGCCCCCACATGGCCTGCTGACGGGGACCCAGGGCGCCCC
TGCTCTCCAGC
 G
G
 1 a0008c0018t0005g0132
a0008c0018t0005g0132
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2621-204_2621-145d
others(62): Show 
c.2621-204_2621-145delGTGTGGCCTGGCCCCCACATGGCCTGCT
GACGGGGACCCAGGGCGCCCCTGCTCTCCAGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 31/41 chr21 45497394
chr21:45497558 C
C
 T
T
 4 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
others(1): Show 
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
 4 NA18954.hp1
NA18977.hp2
NA19070.hp1
others(1): Show 
NA18954.hp1
NA18977.hp2
NA19070.hp1
NA19074.hp2
 intron_variant MODIFIER c.2621-41C>T
c.2621-41C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 31/41 chr21 45497558
chr21:45497686 C
C
 T
T
 2 a0001c0019t0003g0170
a0020c0094t0011g0075
a0001c0019t0003g0170
a0020c0094t0011g0075
 2 HG02717.hp1
NA20129.hp1
HG02717.hp1
NA20129.hp1
 intron_variant MODIFIER c.2683+25C>T
c.2683+25C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45497686
chr21:45497868 A
A
 G
G
 137 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(134): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0002t0006g0233
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0270
a0001c0011t0001g0016
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0003g0219
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0034t0001g0141
a0007c0076t0002g0281
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 137 HG00099.hp1
HG00280.hp1
HG00408.hp2
others(134): Show 
HG00099.hp1
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03654.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+207A>G
c.2683+207A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45497868
chr21:45497977 C
C
 T
T
 5 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
others(2): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
 5 HG01243.hp1
HG02258.hp1
HG02559.hp2
others(2): Show 
HG01243.hp1
HG02258.hp1
HG02559.hp2
HG02723.hp2
HG03098.hp2
 intron_variant MODIFIER c.2683+316C>T
c.2683+316C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45497977
chr21:45498018 C
C
 T
T
 158 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(155): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0047
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0046t0001g0002
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0003g0219
a0006c0028t0003g0230
a0007c0031t0002g0123
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 158 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+357C>T
c.2683+357C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498018
chr21:45498021 C
C
 T
T
 13 a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0017t0002g0179
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0088t0002g0006
a0025c0050t0002g0108
 13 HG00733.hp1
HG01074.hp2
HG01081.hp1
others(10): Show 
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01261.hp2
HG03041.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp2
HG03654.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+360C>T
c.2683+360C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498021
chr21:45498061 G
G
 A
A
 57 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(54): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0267
a0001c0005t0002g0217
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0046t0001g0002
a0005c0060t0001g0063
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0030c0056t0001g0044
a0032c0052t0002g0077
 57 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(54): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.2683+400G>A
c.2683+400G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498061
chr21:45498121 A
A
 ATTCCCCC
others(109): Show 
ATTCCCCCCTGAGCCCCACCTCCATTGAGGGTGGCAGGGCTGCTTGGATG
TCCTGCCAAGACCACTGAGAACAGCTGGATAAAATGTGAGAAAACCACTG
TTTGAGGATGTCTGGGG
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.2683+461_2683+576d
others(118): Show 
c.2683+461_2683+576dupTTCCCCCCTGAGCCCCACCTCCATTGAG
GGTGGCAGGGCTGCTTGGATGTCCTGCCAAGACCACTGAGAACAGCTGGA
TAAAATGTGAGAAAACCACTGTTTGAGGATGTCTGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498121
chr21:45498151 G
G
 T
T
 14 a0001c0017t0002g0179
a0001c0098t0001g0007
a0002c0020t0001g0010
others(11): Show 
a0001c0017t0002g0179
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 14 HG00733.hp1
HG01070.hp2
HG01074.hp2
others(11): Show 
HG00733.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+490G>T
c.2683+490G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498151
chr21:45498168 A
A
 C
C
 14 a0001c0001t0001g0120
a0001c0017t0002g0179
a0002c0020t0001g0010
others(11): Show 
a0001c0001t0001g0120
a0001c0017t0002g0179
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 14 HG00733.hp1
HG01070.hp2
HG01074.hp2
others(11): Show 
HG00733.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01243.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+507A>C
c.2683+507A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498168
chr21:45498327 C
C
 T
T
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
 5 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2683+666C>T
c.2683+666C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498327
chr21:45498336 CCCCTCTC
others(12): Show 
CCCCTCTCACCGCCAGGGTT
 C
C
 17 a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
others(14): Show 
a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0026c0044t0001g0037
 17 HG00544.hp1
HG02145.hp1
HG02258.hp2
others(14): Show 
HG00544.hp1
HG02145.hp1
HG02258.hp2
HG02572.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2683+683_2683+701d
others(21): Show 
c.2683+683_2683+701delACCGCCAGGGTTCCCTCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498336
chr21:45498363 G
G
 A
A
 22 a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
others(19): Show 
a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 22 HG00280.hp1
HG00733.hp1
HG01070.hp2
others(19): Show 
HG00280.hp1
HG00733.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+702G>A
c.2683+702G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498363
chr21:45498370 C
C
 CGGTCCCC
others(12): Show 
CGGTCCCCTCTCGCCGCCAG
 5 a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
others(2): Show 
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0029c0071t0002g0134
 5 HG00099.hp1
HG00642.hp2
HG01192.hp2
others(2): Show 
HG00099.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG03927.hp2
 intron_variant MODIFIER c.2683+747_2683+765d
others(21): Show 
c.2683+747_2683+765dupGGGTCCCCTCTCGCCGCCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498370
chr21:45498370 CGGTCCCC
others(12): Show 
CGGTCCCCTCTCGCCGCCAG
 C
C
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2683+747_2683+765d
others(21): Show 
c.2683+747_2683+765delGGGTCCCCTCTCGCCGCCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498370
chr21:45498381 C
C
 T
T
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
 5 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2683+720C>T
c.2683+720C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498381
chr21:45498404 G
G
 A
A
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.2683+743G>A
c.2683+743G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498404
chr21:45498408 GGGTCCCC
others(50): Show 
GGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCGCCAGGGTCCCCTCTC
GCCGCCAC
 G
G
 1 a0001c0001t0001g0128
a0001c0001t0001g0128
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.2683+755_2683+811d
others(59): Show 
c.2683+755_2683+811delTCTCGCCGCCACGGTCCCCTCTCGCCGC
CAGGGTCCCCTCTCGCCGCCACGGTCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498408
chr21:45498410 G
G
 A
A
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2683+749G>A
c.2683+749G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498410
chr21:45498422 C
C
 T
T
 1 a0001c0017t0003g0284
a0001c0017t0003g0284
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.2683+761C>T
c.2683+761C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498422
chr21:45498442 G
G
 A
A
 1 a0001c0033t0002g0100
a0001c0033t0002g0100
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2683+781G>A
c.2683+781G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498442
chr21:45498442 G
G
 GCCAGGGT
others(88): Show 
GCCAGGGTCCCCTCTCGCCACCACGGTCCCCTCTCGCCGCCAGGGTCCCC
TCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCA
 1 a0003c0046t0001g0002
a0003c0046t0001g0002
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.2683+799_2683+800i
others(97): Show 
c.2683+799_2683+800insACCACGGTCCCCTCTCGCCGCCAGGGTC
CCCTCTCGCCGCCAGGGTCCCCTCTCGCCGCCACGGTCCCCTCTCGCCAC
CAGGGTCCCCTCTCGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498442
chr21:45498472 C
C
 T
T
 4 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
 4 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03579.hp1
 intron_variant MODIFIER c.2683+811C>T
c.2683+811C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498472
chr21:45498495 C
C
 T
T
 1 a0001c0005t0006g0173
a0001c0005t0006g0173
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.2683+834C>T
c.2683+834C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498495
chr21:45498571 A
A
 AG
AG
 4 a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
others(1): Show 
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0004t0001g0071
 4 HG01943.hp1
HG01993.hp2
HG02004.hp2
others(1): Show 
HG01943.hp1
HG01993.hp2
HG02004.hp2
NA18952.hp1
 intron_variant MODIFIER c.2683+912dupG
c.2683+912dupG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498571
chr21:45498660 T
T
 C
C
 167 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(164): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 167 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(164): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+999T>C
c.2683+999T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498660
chr21:45498696 C
C
 T
T
 4 a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
others(1): Show 
a0001c0003t0001g0182
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0004t0001g0071
 4 HG01943.hp1
HG01993.hp2
HG02004.hp2
others(1): Show 
HG01943.hp1
HG01993.hp2
HG02004.hp2
NA18952.hp1
 intron_variant MODIFIER c.2683+1035C>T
c.2683+1035C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498696
chr21:45498709 G
G
 A
A
 2 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0038t0004g0028
a0001c0038t0004g0029
 2 HG02572.hp1
HG02622.hp1
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.2683+1048G>A
c.2683+1048G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45498709
chr21:45498918 G
G
 GATTGAGA
others(104): Show 
GATTGAGACCTGTGTATAGGTTTTGGTCGACGTGGGATTGCTTGTCCCTG
GGAGCCAGAACGAGGGCTCCGAGGGCTCTAGAGGGAACAGTGTTTGCAGG
CGGAATGGCTGA
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2683+1258_2683+136
others(115): Show 
c.2683+1258_2683+1368dupATTGAGACCTGTGTATAGGTTTTGGT
CGACGTGGGATTGCTTGTCCCTGGGAGCCAGAACGAGGGCTCCGAGGGCT
CTAGAGGGAACAGTGTTTGCAGGCGGAATGGCTGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45498918
chr21:45499073 C
C
 T
T
 67 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
others(64): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0002g0091
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0267
a0001c0005t0002g0217
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0103t0001g0136
a0005c0060t0001g0063
a0006c0026t0001g0083
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0030c0056t0001g0044
a0032c0052t0002g0077
 67 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(64): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.2683+1412C>T
c.2683+1412C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499073
chr21:45499218 G
G
 A
A
 119 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(116): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 119 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(116): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1557G>A
c.2683+1557G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499218
chr21:45499262 A
A
 G
G
 291 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(288): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0023
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 291 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(288): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.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
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.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
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.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
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
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1601A>G
c.2683+1601A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499262
chr21:45499264 T
T
 TGGAG
TGGAG
 24 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(21): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0026c0044t0001g0037
 24 HG00544.hp1
HG00733.hp2
HG02145.hp1
others(21): Show 
HG00544.hp1
HG00733.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2683+1606_2683+160
others(8): Show 
c.2683+1606_2683+1609dupAGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499264
chr21:45499324 C
C
 G
G
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2683+1663C>G
c.2683+1663C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499324
chr21:45499328 G
G
 A
A
 5 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
others(2): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
 5 HG01243.hp1
HG02258.hp1
HG02559.hp2
others(2): Show 
HG01243.hp1
HG02258.hp1
HG02559.hp2
HG02723.hp2
HG03098.hp2
 intron_variant MODIFIER c.2683+1667G>A
c.2683+1667G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499328
chr21:45499352 G
G
 C
C
 23 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(20): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 23 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(20): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1691G>C
c.2683+1691G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499352
chr21:45499434 C
C
 T
T
 2 a0001c0001t0001g0191
a0030c0056t0001g0044
a0001c0001t0001g0191
a0030c0056t0001g0044
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.2683+1773C>T
c.2683+1773C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499434
chr21:45499435 G
G
 T
T
 3 a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
 3 HG02080.hp2
NA19005.hp2
NA19057.hp2
HG02080.hp2
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.2683+1774G>T
c.2683+1774G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499435
chr21:45499436 C
C
 T
T
 107 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(104): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 107 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(104): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1775C>T
c.2683+1775C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499436
chr21:45499444 C
C
 CGTGTGGG
others(176): Show 
CGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTC
CCTCAGGAACCTGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGG
GTCAGAGGCTCCCTCAGGAACCTGTGTGGGCTGCCCCGCATGGCATCCCA
GGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCT
 3 a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0238
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0238
 3 HG00408.hp1
HG01928.hp2
NA19064.hp1
HG00408.hp1
HG01928.hp2
NA19064.hp1
 intron_variant MODIFIER c.2683+1897_2683+189
others(187): Show 
c.2683+1897_2683+1898insAGGAACCTGTGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGTGTGGG
CTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGA
ACCTGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG
CTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499444
chr21:45499444 CGTGTGGG
others(54): Show 
CGTGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTC
CCTCAGGAACCT
 C
C
 7 a0001c0008t0002g0272
a0001c0022t0001g0008
a0001c0022t0001g0021
others(4): Show 
a0001c0008t0002g0272
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0020c0094t0011g0075
 7 HG01978.hp1
HG02572.hp1
HG02622.hp1
others(4): Show 
HG01978.hp1
HG02572.hp1
HG02622.hp1
HG02717.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2683+1837_2683+189
others(65): Show 
c.2683+1837_2683+1897delAGGAACCTGTGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499444
chr21:45499446 T
T
 C
C
 110 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(107): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 110 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(107): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1785T>C
c.2683+1785T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499446
chr21:45499446 T
T
 TGTGGGCT
others(115): Show 
TGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCC
GTGGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGT
CAGAGGCTCCCTCAGGAACCCGC
 21 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(18): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
 21 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(18): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1834_2683+183
others(126): Show 
c.2683+1834_2683+1835insGTGGGAACCCGCGTGGGCTGCCCCAC
ATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCCGCGTG
GGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499446
chr21:45499458 C
C
 CGCATGGC
others(115): Show 
CGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGC
GTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCT
CAGGAACCCGCGTGGGCTGCCCT
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2683+1834_2683+183
others(126): Show 
c.2683+1834_2683+1835insGTGGGAACCCGCGTGGGCTGCCCCAC
ATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCCGCGTG
GGCTGCCCTGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499458
chr21:45499459 G
G
 A
A
 107 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(104): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 107 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(104): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1798G>A
c.2683+1798G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499459
chr21:45499459 G
G
 GCATGGCA
others(55): Show 
GCATGGCATCCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGC
GTGGGCTGCCCCA
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+1809_2683+181
others(66): Show 
c.2683+1809_2683+1810insCAGGAACAGTGGGGTCAGAGGCTCCC
GTGGGAACCCGCGTGGGCTGCCCCACATGGCATCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499459
chr21:45499470 C
C
 G
G
 13 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(10): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 13 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(10): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.2683+1809C>G
c.2683+1809C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499470
chr21:45499496 T
T
 G
G
 22 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(19): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 22 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(19): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1835T>G
c.2683+1835T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499496
chr21:45499497 C
C
 T
T
 22 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(19): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 22 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(19): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1836C>T
c.2683+1836C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499497
chr21:45499498 A
A
 G
G
 139 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(136): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 139 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(136): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1837A>G
c.2683+1837A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499498
chr21:45499505 T
T
 C
C
 131 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(128): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 131 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(128): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1844T>C
c.2683+1844T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499505
chr21:45499507 T
T
 C
C
 164 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(161): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 164 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1846T>C
c.2683+1846T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499507
chr21:45499520 G
G
 A
A
 22 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(19): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 22 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(19): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1859G>A
c.2683+1859G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(55): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCCGTGGGAACCCGC
GTGGGCTGCCCCA
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+1895_2683+189
others(66): Show 
c.2683+1895_2683+1896insCGTGGGAACCCGCGTGGGCTGCCCCA
CATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(54): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCG
TGGGCTGCCCCA
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2683+1895_2683+189
others(65): Show 
c.2683+1895_2683+1896insGTGGGAACCCGCGTGGGCTGCCCCAC
ATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(237): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCG
TGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC
GGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCA
GAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAA
CAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCA
 9 a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
others(6): Show 
a0001c0004t0001g0290
a0001c0035t0001g0072
a0001c0035t0001g0073
a0002c0020t0003g0156
a0004c0099t0003g0030
a0004c0100t0001g0039
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 9 HG02080.hp2
HG02257.hp1
HG02809.hp1
others(6): Show 
HG02080.hp2
HG02257.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
NA19005.hp2
NA19043.hp1
NA19057.hp2
 intron_variant MODIFIER c.2683+1895_2683+189
others(248): Show 
c.2683+1895_2683+1896insGTGGGAACCCGCGTGGGCTGCCCCAC
ATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTG
GGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAG
GAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGA
GGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACA
GTGGGGTCAGAGGCTCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(115): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG
TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT
GGGAACCCGCGTGGGCTGCCCCA
 5 a0001c0003t0001g0081
a0001c0004t0001g0071
a0001c0004t0001g0174
others(2): Show 
a0001c0003t0001g0081
a0001c0004t0001g0071
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0267
 5 HG01123.hp2
HG03688.hp2
NA18952.hp1
others(2): Show 
HG01123.hp2
HG03688.hp2
NA18952.hp1
NA18959.hp2
NA19002.hp2
 intron_variant MODIFIER c.2683+1897_2683+189
others(126): Show 
c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGG
CTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(176): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG
TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT
GGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCA
GAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCA
 1 a0001c0007t0002g0185
a0001c0007t0002g0185
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.2683+1897_2683+189
others(187): Show 
c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGG
CTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGA
ACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGG
CTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(298): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG
TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT
GGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCA
GAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAA
CAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGG
CATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCT
GCCCCA
 99 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(96): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 99 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(96): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18953.hp1
NA18954.hp1
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+1897_2683+189
others(309): Show 
c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGG
CTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGA
ACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG
CTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGT
GGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATC
CCAGGAACAGTGGGGTCAGAGGCTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(298): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG
TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT
GGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCA
GAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAA
CAGTGGGGTCAGAGGCTCCCTCGGGAACCTGCGTGGGCTGCCCCGCATGG
CATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCT
GCCCCA
 1 a0001c0004t0001g0032
a0001c0004t0001g0032
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.2683+1897_2683+189
others(309): Show 
c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGG
CTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGA
ACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG
CTCCCTCGGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGT
GGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATC
CCAGGAACAGTGGGGTCAGAGGCTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(237): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG
TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC
GGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCA
GAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAA
CAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCA
 1 a0001c0001t0001g0128
a0001c0001t0001g0128
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.2683+1897_2683+189
others(248): Show 
c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT
GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTGGG
CTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGA
ACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG
CTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGT
GGGGTCAGAGGCTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(297): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG
TGGGCTGCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTG
GGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAG
AGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAAC
AGTGGGGTCAGAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGC
ATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTG
CCCCA
 1 a0028c0097t0001g0036
a0028c0097t0001g0036
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2683+1897_2683+189
others(308): Show 
c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCGCATG
GCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGC
TGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAA
CCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGC
TCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTG
GGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATCC
CAGGAACAGTGGGGTCAGAGGCTCCCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499520 G
G
 GCATGGCA
others(115): Show 
GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCTGCG
TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT
GGGAACCCGCGTGGGCTGCCCCA
 1 a0004c0023t0002g0138
a0004c0023t0002g0138
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.2683+1904_2683+190
others(126): Show 
c.2683+1904_2683+1905insTGCGTGGGCTGCCCCGCATGGCATCC
CAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCC
ACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45499520
chr21:45499531 C
C
 T
T
 1 a0001c0005t0003g0211
a0001c0005t0003g0211
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.2683+1870C>T
c.2683+1870C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499531
chr21:45499559 G
G
 A
A
 5 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
others(2): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
 5 HG01243.hp1
HG02258.hp1
HG02559.hp2
others(2): Show 
HG01243.hp1
HG02258.hp1
HG02559.hp2
HG02723.hp2
HG03098.hp2
 intron_variant MODIFIER c.2683+1898G>A
c.2683+1898G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499559
chr21:45499565 C
C
 G
G
 1 a0001c0003t0001g0289
a0001c0003t0001g0289
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.2683+1904C>G
c.2683+1904C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499565
chr21:45499574 C
C
 T
T
 23 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(20): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 23 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(20): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1913C>T
c.2683+1913C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499574
chr21:45499620 A
A
 G
G
 4 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.2683+1959A>G
c.2683+1959A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499620
chr21:45499632 A
A
 G
G
 23 a0001c0001t0001g0266
a0001c0002t0002g0117
a0001c0002t0002g0140
others(20): Show 
a0001c0001t0001g0266
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 23 HG00280.hp1
HG00323.hp2
HG00733.hp1
others(20): Show 
HG00280.hp1
HG00323.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+1971A>G
c.2683+1971A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499632
chr21:45499684 C
C
 G
G
 1 a0001c0001t0001g0253
a0001c0001t0001g0253
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.2683+2023C>G
c.2683+2023C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499684
chr21:45499742 G
G
 A
A
 3 a0002c0020t0003g0156
a0004c0100t0001g0039
a0027c0070t0001g0012
a0002c0020t0003g0156
a0004c0100t0001g0039
a0027c0070t0001g0012
 3 HG02257.hp1
HG03098.hp1
NA19043.hp1
HG02257.hp1
HG03098.hp1
NA19043.hp1
 intron_variant MODIFIER c.2683+2081G>A
c.2683+2081G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499742
chr21:45499787 C
C
 T
T
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2683+2126C>T
c.2683+2126C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499787
chr21:45499940 G
G
 A
A
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.2683+2279G>A
c.2683+2279G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499940
chr21:45499996 C
C
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.2683+2335C>A
c.2683+2335C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45499996
chr21:45500000 G
G
 C
C
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2683+2339G>C
c.2683+2339G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500000
chr21:45500004 C
C
 T
T
 169 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(166): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0243
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 169 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2343C>T
c.2683+2343C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500004
chr21:45500041 G
G
 GAGGTCGA
others(3): Show 
GAGGTCGAGGC
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+2382_2683+239
others(14): Show 
c.2683+2382_2683+2391dupGGTCGAGGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500041
chr21:45500086 AGTGT
AGTGT
 A
A
 80 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(77): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0175
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0053t0001g0244
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 80 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(77): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19065.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.2683+2430_2683+243
others(8): Show 
c.2683+2430_2683+2433delGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500086
chr21:45500127 G
G
 A
A
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2683+2466G>A
c.2683+2466G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500127
chr21:45500153 A
A
 ATGTGGGT
others(21): Show 
ATGTGGGTGTGTAGTGTGGGGGTGTATAG
 2 a0004c0100t0001g0039
a0027c0070t0001g0012
a0004c0100t0001g0039
a0027c0070t0001g0012
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.2683+2504_2683+253
others(32): Show 
c.2683+2504_2683+2531dupAGTGTGGGGGTGTATAGTGTGGGTGT
GT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500153
chr21:45500163 GTAGTGTG
others(8): Show 
GTAGTGTGGGGGTGTA
 G
G
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2683+2512_2683+252
others(19): Show 
c.2683+2512_2683+2526delGGTGTATAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500163
chr21:45500181 G
G
 A
A
 3 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0186
 3 HG01074.hp2
HG01081.hp1
NA18906.hp1
HG01074.hp2
HG01081.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+2520G>A
c.2683+2520G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500181
chr21:45500202 G
G
 GTA
GTA
 144 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(141): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 144 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2542_2683+254
others(6): Show 
c.2683+2542_2683+2543insAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500202
chr21:45500221 A
A
 ATAGTGTG
others(41): Show 
ATAGTGTGGAGGTGTGAGGGGGGTGTGTGGAGTGTTTGTGTTGGGTGTG
 2 a0002c0083t0001g0237
a0010c0014t0001g0279
a0002c0083t0001g0237
a0010c0014t0001g0279
 2 HG03710.hp2
NA18953.hp1
HG03710.hp2
NA18953.hp1
 intron_variant MODIFIER c.2683+2581_2683+258
others(52): Show 
c.2683+2581_2683+2582insGTGTGTGGAGTGTTTGTGTTGGGTGT
GTAGTGTGGAGGTGTGAGGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500221
chr21:45500221 A
A
 ATAGTGTG
others(40): Show 
ATAGTGTGGAGGTGTGAGGGGGTGTGTGGAGTGTTTGTGTTGGGTGTG
 117 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(114): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0067t0001g0041
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 117 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(114): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2593_2683+259
others(51): Show 
c.2683+2593_2683+2594insTTGTGTTGGGTGTGTAGTGTGGAGGT
GTGAGGGGGTGTGTGGAGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500221
chr21:45500221 A
A
 ATAGTGTG
others(41): Show 
ATAGTGTGGAGGTGTGATGGGGGTGTGTGGAGTGTTTGTGTTGGGTGTG
 1 a0001c0025t0002g0164
a0001c0025t0002g0164
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2683+2576_2683+257
others(52): Show 
c.2683+2576_2683+2577insTGGGGGTGTGTGGAGTGTTTGTGTTG
GGTGTGTAGTGTGGAGGTGTGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500221
chr21:45500236 G
G
 GAGGGGGT
others(40): Show 
GAGGGGGTGTGTGGAGTGTTTGTGTTGGGTGTGTAGTGTGGAGGTGTA
 1 a0001c0003t0001g0193
a0001c0003t0001g0193
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2683+2593_2683+259
others(51): Show 
c.2683+2593_2683+2594insTTGTGTTGGGTGTGTAGTGTGGAGGT
GTAAGGGGGTGTGTGGAGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500236
chr21:45500282 G
G
 A
A
 3 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
 3 HG02258.hp2
HG02572.hp2
HG02717.hp2
HG02258.hp2
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.2683+2621G>A
c.2683+2621G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500282
chr21:45500293 A
A
 AGT
AGT
 169 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(166): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 169 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2635_2683+263
others(6): Show 
c.2683+2635_2683+2636dupGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500293
chr21:45500343 A
A
 ATGTGGGT
others(63): Show 
ATGTGGGTGTTGGGTGTGTAGTGTGTGAGGGGGTGGGGGTGTGTGGAGTG
TGTGTATGTGGGTGTTGGGTG
 1 a0001c0025t0002g0164
a0001c0025t0002g0164
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2683+2688_2683+275
others(74): Show 
c.2683+2688_2683+2757dupGTGTTGGGTGTGTAGTGTGTGAGGGG
GTGGGGGTGTGTGGAGTGTGTGTATGTGGGTGTTGGGTGTGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500343
chr21:45500362 AGT
AGT
 A
A
 20 a0001c0041t0001g0155
a0001c0063t0001g0144
a0003c0009t0001g0054
others(17): Show 
a0001c0041t0001g0155
a0001c0063t0001g0144
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0026c0044t0001g0037
 20 HG00544.hp1
HG00733.hp2
HG02145.hp1
others(17): Show 
HG00544.hp1
HG00733.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
HG06807.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2683+2707_2683+270
others(6): Show 
c.2683+2707_2683+2708delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500362
chr21:45500375 G
G
 T
T
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+2714G>T
c.2683+2714G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500375
chr21:45500389 AGTGT
AGTGT
 A
A
 30 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
others(27): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0033t0002g0169
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0069t0005g0038
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0026c0044t0001g0037
 30 HG00544.hp1
HG00733.hp2
HG01243.hp1
others(27): Show 
HG00544.hp1
HG00733.hp2
HG01243.hp1
HG02109.hp2
HG02145.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19074.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2683+2733_2683+273
others(8): Show 
c.2683+2733_2683+2736delGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500389
chr21:45500460 T
T
 G
G
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+2799T>G
c.2683+2799T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500460
chr21:45500463 A
A
 T
T
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
 5 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2683+2802A>T
c.2683+2802A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500463
chr21:45500467 T
T
 G
G
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2683+2806T>G
c.2683+2806T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500467
chr21:45500472 G
G
 A
A
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.2683+2811G>A
c.2683+2811G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500472
chr21:45500481 G
G
 GGTGTGT
GGTGTGT
 114 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(111): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0067t0001g0041
a0002c0083t0001g0237
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 114 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(111): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.2683+2821_2683+282
others(10): Show 
c.2683+2821_2683+2826dupGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500481
chr21:45500481 G
G
 GGTGTGTG
others(75): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
 1 a0006c0026t0003g0219
a0006c0026t0003g0219
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2826_2683+282
others(86): Show 
c.2683+2826_2683+2827insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500481
chr21:45500481 G
G
 GGTGTGTG
others(75): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
 4 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(1): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0063t0001g0144
 4 HG02055.hp2
HG02145.hp2
HG02809.hp2
others(1): Show 
HG02055.hp2
HG02145.hp2
HG02809.hp2
HG06807.hp1
 intron_variant MODIFIER c.2683+2826_2683+282
others(86): Show 
c.2683+2826_2683+2827insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500481
chr21:45500490 C
C
 G
G
 145 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(142): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 145 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(142): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2829C>G
c.2683+2829C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500490
chr21:45500498 G
G
 C
C
 19 a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
others(16): Show 
a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0026c0044t0001g0037
 19 HG00544.hp1
HG00733.hp2
HG02145.hp1
others(16): Show 
HG00544.hp1
HG00733.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2683+2837G>C
c.2683+2837G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500498
chr21:45500515 G
G
 GGTGT
GGTGT
 24 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(21): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 24 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(21): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19060.hp2
NA20300.hp1
 intron_variant MODIFIER c.2683+2859_2683+286
others(8): Show 
c.2683+2859_2683+2862dupGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500515
chr21:45500528 T
T
 C
C
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2683+2867T>C
c.2683+2867T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500528
chr21:45500533 A
A
 AGGGTGTG
others(782): Show 
AGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
 13 a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
others(10): Show 
a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0004c0057t0002g0035
 13 HG01261.hp2
HG01891.hp1
HG02615.hp1
others(10): Show 
HG01261.hp2
HG01891.hp1
HG02615.hp1
HG02723.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp1
HG03540.hp1
HG06807.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(793): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGGGTGTG
others(778): Show 
AGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTATAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
 5 a0001c0001t0001g0103
a0001c0001t0001g0234
a0001c0001t0001g0273
others(2): Show 
a0001c0001t0001g0103
a0001c0001t0001g0234
a0001c0001t0001g0273
a0001c0002t0002g0133
a0001c0002t0006g0233
 5 HG00558.hp2
HG02040.hp2
HG02165.hp1
others(2): Show 
HG00558.hp2
HG02040.hp2
HG02165.hp1
NA18995.hp2
NA19012.hp2
 intron_variant MODIFIER c.2683+3073_2683+307
others(789): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTATA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGGGTGTG
others(778): Show 
AGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
 27 a0001c0001t0001g0121
a0001c0001t0001g0126
a0001c0001t0001g0241
others(24): Show 
a0001c0001t0001g0121
a0001c0001t0001g0126
a0001c0001t0001g0241
a0001c0001t0004g0223
a0001c0002t0002g0047
a0001c0002t0002g0074
a0001c0002t0002g0102
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0017g0216
a0001c0005t0002g0070
a0001c0005t0002g0232
a0001c0005t0003g0211
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0030t0002g0285
a0001c0030t0002g0286
a0003c0010t0006g0014
a0006c0028t0003g0059
 27 HG00323.hp1
HG00639.hp1
HG01255.hp1
others(24): Show 
HG00323.hp1
HG00639.hp1
HG01255.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01496.hp2
HG01978.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp1
HG02602.hp1
HG02647.hp2
HG02735.hp1
HG02735.hp2
HG03704.hp2
HG04228.hp2
NA18747.hp1
NA18954.hp2
NA18995.hp1
NA18999.hp2
NA19010.hp2
NA20905.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(789): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGGGTGTG
others(818): Show 
AGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGG
 12 a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0187
others(9): Show 
a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0187
a0001c0001t0001g0228
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0002t0002g0104
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0061t0001g0257
a0001c0081t0003g0154
a0003c0010t0002g0151
 12 HG00621.hp1
NA18944.hp1
NA18949.hp1
others(9): Show 
HG00621.hp1
NA18944.hp1
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18983.hp2
NA19007.hp1
NA19065.hp1
NA19070.hp2
NA19088.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(829): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTG
AGTG
 116 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(113): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 116 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(113): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+2873_2683+287
others(7): Show 
c.2683+2873_2683+2874insTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGG
AGTGTGG
 7 a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
others(4): Show 
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
a0009c0016t0001g0084
a0009c0016t0002g0252
a0012c0065t0002g0096
a0025c0050t0002g0108
 7 HG01070.hp2
HG01074.hp2
HG03041.hp1
others(4): Show 
HG01070.hp2
HG01074.hp2
HG03041.hp1
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+2873_2683+287
others(10): Show 
c.2683+2873_2683+2874insTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(488): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
 3 a0001c0037t0001g0062
a0001c0037t0001g0157
a0030c0056t0001g0044
a0001c0037t0001g0062
a0001c0037t0001g0157
a0030c0056t0001g0044
 3 HG02970.hp2
HG03195.hp1
HG03486.hp2
HG02970.hp2
HG03195.hp1
HG03486.hp2
 intron_variant MODIFIER c.2683+2873_2683+287
others(499): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
TTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(488): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2683+2873_2683+287
others(499): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG
TTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(1002): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTGG
 1 a0005c0060t0001g0063
a0005c0060t0001g0063
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2683+2873_2683+287
others(1013): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(129): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
 14 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(11): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0002c0020t0001g0010
a0002c0021t0002g0001
a0009c0016t0001g0209
a0012c0088t0002g0006
 14 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(11): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02965.hp1
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+2873_2683+287
others(140): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(351): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGG
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2683+2873_2683+287
others(362): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(678): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
 1 a0007c0034t0001g0282
a0007c0034t0001g0282
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.2683+2873_2683+287
others(689): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500533 A
A
 AGTGTGGG
others(118): Show 
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTG
GTGTGTGGTGGGGGTGTGGTTTGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGG
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2683+2873_2683+287
others(129): Show 
c.2683+2873_2683+2874insTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGGGGTGTGGTTTGGTGTGTGGTGGGGGTGTGGTTTGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500533
chr21:45500547 T
T
 TGTGTGTT
others(349): Show 
TGTGTGTTGGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGGTTTGGTGTGTGTG
TGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTGGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGT
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+2896_2683+289
others(360): Show 
c.2683+2896_2683+2897insGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGG
TTTGGTGTGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTTGGGTGTGTAGTG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500547
chr21:45500565 T
T
 TGGGGTGT
others(13): Show 
TGGGGTGTGGTTTGGTGTGTG
 6 a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
others(3): Show 
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
a0009c0016t0001g0084
a0012c0065t0002g0096
a0025c0050t0002g0108
 6 HG01070.hp2
HG01074.hp2
HG03041.hp1
others(3): Show 
HG01070.hp2
HG01074.hp2
HG03041.hp1
HG03654.hp1
HG03942.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+2905_2683+290
others(24): Show 
c.2683+2905_2683+2906insGGGTGTGGTTTGGTGTGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500565
chr21:45500572 G
G
 T
T
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2683+2911G>T
c.2683+2911G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500572
chr21:45500581 G
G
 GGT
GGT
 3 a0004c0100t0001g0039
a0007c0034t0001g0282
a0027c0070t0001g0012
a0004c0100t0001g0039
a0007c0034t0001g0282
a0027c0070t0001g0012
 3 HG02257.hp1
HG03098.hp1
NA19060.hp2
HG02257.hp1
HG03098.hp1
NA19060.hp2
 intron_variant MODIFIER c.2683+2925_2683+292
others(6): Show 
c.2683+2925_2683+2926dupGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500581
chr21:45500581 G
G
 GGTGTGTT
others(771): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGT
 1 a0006c0072t0002g0082
a0006c0072t0002g0082
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(782): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500581
chr21:45500581 G
G
 GGTGTGTT
others(784): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
 8 a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
others(5): Show 
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 8 HG00099.hp1
HG00642.hp2
HG01192.hp2
others(5): Show 
HG00099.hp1
HG00642.hp2
HG01192.hp2
HG01978.hp2
HG02132.hp1
HG03927.hp2
NA18747.hp2
NA18998.hp2
 intron_variant MODIFIER c.2683+3073_2683+307
others(795): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500581
chr21:45500581 G
G
 GGTGTGTT
others(783): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGGGTGTGTGTTGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
 1 a0007c0076t0002g0281
a0007c0076t0002g0281
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(794): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500581
chr21:45500615 G
G
 GGTGTGTG
others(784): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
 1 a0001c0011t0001g0017
a0001c0011t0001g0017
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(795): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500615
chr21:45500619 T
T
 TGTGTGTG
others(69): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTG
 14 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(11): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0002c0020t0001g0010
a0002c0021t0002g0001
a0009c0016t0001g0209
a0012c0088t0002g0006
 14 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(11): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01081.hp1
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02965.hp1
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.2683+3002_2683+300
others(80): Show 
c.2683+3002_2683+3003insGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500619
chr21:45500619 T
T
 TGTGTGTG
others(143): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
G
 1 a0001c0033t0002g0169
a0001c0033t0002g0169
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.2683+3038_2683+303
others(154): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500619
chr21:45500619 T
T
 TGTGTGTG
others(217): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGTGTGGTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2683+3020_2683+302
others(228): Show 
c.2683+3020_2683+3021insTGTGGTTTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500619
chr21:45500619 T
T
 TGTGTGTG
others(66): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2683+2996_2683+299
others(77): Show 
c.2683+2996_2683+2997insTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500619
chr21:45500619 T
T
 TGTGTGTG
others(141): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTG
TGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2683+2984_2683+298
others(152): Show 
c.2683+2984_2683+2985insTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGG
TTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500619
chr21:45500619 T
T
 TGTGTTGG
others(139): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 2 a0001c0003t0001g0145
a0001c0082t0008g0053
a0001c0003t0001g0145
a0001c0082t0008g0053
 2 HG02818.hp1
HG03579.hp2
HG02818.hp1
HG03579.hp2
 intron_variant MODIFIER c.2683+2962_2683+296
others(150): Show 
c.2683+2962_2683+2963insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500619
chr21:45500621 T
T
 TGTGTGTT
others(738): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(749): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500621
chr21:45500641 TGG
TGG
 T
T
 19 a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
others(16): Show 
a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0026c0044t0001g0037
 19 HG00544.hp1
HG00733.hp2
HG02145.hp1
others(16): Show 
HG00544.hp1
HG00733.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2683+2984_2683+298
others(6): Show 
c.2683+2984_2683+2985delGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500641
chr21:45500655 G
G
 GGTGT
GGTGT
 3 a0001c0005t0006g0173
a0004c0100t0001g0039
a0027c0070t0001g0012
a0001c0005t0006g0173
a0004c0100t0001g0039
a0027c0070t0001g0012
 3 HG02257.hp1
HG03098.hp1
NA19091.hp2
HG02257.hp1
HG03098.hp1
NA19091.hp2
 intron_variant MODIFIER c.2683+2999_2683+300
others(8): Show 
c.2683+2999_2683+3002dupGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500655
chr21:45500682 G
G
 GTGTGGTT
others(143): Show 
GTGTGGTTTCGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
T
 3 a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0007t0002g0161
a0001c0025t0002g0159
a0001c0025t0002g0164
 3 HG00438.hp1
HG00597.hp2
HG02129.hp2
HG00438.hp1
HG00597.hp2
HG02129.hp2
 intron_variant MODIFIER c.2683+3029_2683+303
others(154): Show 
c.2683+3029_2683+3030insCGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGTTGTGGTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500682
chr21:45500682 G
G
 GTGTGGTT
others(143): Show 
GTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
T
 2 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0001t0001g0033
a0001c0001t0001g0192
 2 HG02559.hp2
HG03098.hp2
HG02559.hp2
HG03098.hp2
 intron_variant MODIFIER c.2683+3040_2683+304
others(154): Show 
c.2683+3040_2683+3041insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGTTGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500682
chr21:45500682 G
G
 GTGTGGTT
others(143): Show 
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
T
 40 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
others(37): Show 
a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0101
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0004t0001g0071
a0001c0004t0001g0214
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0063t0001g0144
a0002c0012t0004g0058
a0002c0083t0001g0237
a0002c0103t0001g0136
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0032c0052t0002g0077
 40 HG00099.hp2
HG00140.hp2
HG00639.hp2
others(37): Show 
HG00099.hp2
HG00140.hp2
HG00639.hp2
HG00738.hp1
HG01123.hp2
HG01167.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG03017.hp2
HG03195.hp2
HG03239.hp1
HG03688.hp2
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18977.hp2
NA18990.hp2
NA19064.hp2
NA19070.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+3038_2683+303
others(154): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGTTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500682
chr21:45500682 G
G
 T
T
 4 a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0003g0264
others(1): Show 
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0003g0264
a0001c0082t0008g0053
 4 HG02818.hp1
HG03579.hp2
NA18969.hp2
others(1): Show 
HG02818.hp1
HG03579.hp2
NA18969.hp2
NA19010.hp1
 intron_variant MODIFIER c.2683+3021G>T
c.2683+3021G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500682
chr21:45500687 G
G
 GTTTGGTG
others(1122): Show 
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGT
 2 a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0023t0002g0138
a0004c0023t0002g0163
 2 HG01891.hp2
HG03225.hp1
HG01891.hp2
HG03225.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(1133): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500687
chr21:45500689 T
T
 TTGGTGTG
others(138): Show 
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTG
 2 a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0085
a0001c0003t0001g0086
 2 HG00735.hp2
HG01106.hp1
HG00735.hp2
HG01106.hp1
 intron_variant MODIFIER c.2683+3038_2683+303
others(149): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGTTGTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500689
chr21:45500690 T
T
 C
C
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2683+3029T>C
c.2683+3029T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500690
chr21:45500691 GGTGTGT
GGTGTGT
 G
G
 6 a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
others(3): Show 
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
a0009c0016t0001g0084
a0012c0065t0002g0096
a0025c0050t0002g0108
 6 HG01070.hp2
HG01074.hp2
HG03041.hp1
others(3): Show 
HG01070.hp2
HG01074.hp2
HG03041.hp1
HG03654.hp1
HG03942.hp1
NA18906.hp1
 intron_variant MODIFIER c.2683+3037_2683+304
others(10): Show 
c.2683+3037_2683+3042delGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500691
chr21:45500695 T
T
 TGTAGTGT
others(50): Show 
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTG
 1 a0001c0005t0006g0173
a0001c0005t0006g0173
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.2683+3036_2683+303
others(61): Show 
c.2683+3036_2683+3037insAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTG
others(106): Show 
TGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTG
 1 a0005c0058t0001g0165
a0005c0058t0001g0165
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.2683+3046_2683+304
others(117): Show 
c.2683+3046_2683+3047insGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTG
others(298): Show 
TGTGTGTGTTGGGTGTGTAGTGTGAGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
CGTTTG
 4 a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
others(1): Show 
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0019c0096t0015g0045
 4 HG02258.hp2
HG02280.hp1
HG02572.hp2
others(1): Show 
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp2
 intron_variant MODIFIER c.2683+3057_2683+305
others(309): Show 
c.2683+3057_2683+3058insAGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
CGTTTGGTGTGTGTTGGGTGTGTAGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTG
others(694): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TG
 1 a0001c0038t0004g0028
a0001c0038t0004g0028
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2683+3076_2683+307
others(705): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTG
others(105): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTG
 43 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(40): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0175
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0280
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0053t0001g0244
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0004c0091t0001g0056
a0004c0099t0003g0030
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 43 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(40): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG03041.hp2
HG03225.hp2
HG03486.hp1
HG03540.hp2
HG03834.hp2
HG03927.hp1
HG04184.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp2
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.2683+3076_2683+307
others(116): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTG
others(215): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTG
 1 a0028c0097t0001g0036
a0028c0097t0001g0036
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2683+3076_2683+307
others(226): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTG
others(103): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTG
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2683+3076_2683+307
others(114): Show 
c.2683+3076_2683+3077insGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTT
others(2060): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGG
GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTG
 1 a0001c0054t0002g0201
a0001c0054t0002g0201
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.2683+3040_2683+304
others(2071): Show 
c.2683+3040_2683+3041insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTT
others(2020): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGG
GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0027t0001g0019
a0001c0027t0001g0019
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.2683+3040_2683+304
others(2031): Show 
c.2683+3040_2683+3041insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTGTT
others(2021): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGG
GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0027t0001g0020
a0001c0027t0001g0020
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2683+3040_2683+304
others(2032): Show 
c.2683+3040_2683+3041insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTTGG
others(25): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 2 a0004c0100t0001g0039
a0027c0070t0001g0012
a0004c0100t0001g0039
a0027c0070t0001g0012
 2 HG02257.hp1
HG03098.hp1
HG02257.hp1
HG03098.hp1
 intron_variant MODIFIER c.2683+3038_2683+303
others(36): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTTGG
others(103): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTG
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.2683+3038_2683+303
others(114): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTTGG
others(258): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGGGTGTGT
GTGTGTTGGGTGTGTAGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGAGTGGTTTG
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2683+3038_2683+303
others(269): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGTTGTGGGGTGTGTGTGTGTTGGGTGTGTAGTGTTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGAGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTTGG
others(257): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTG
 1 a0001c0007t0002g0220
a0001c0007t0002g0220
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.2683+3038_2683+303
others(268): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTTGG
others(61): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTG
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2683+3038_2683+303
others(72): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTGTTGG
others(97): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTG
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+3038_2683+303
others(108): Show 
c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTTGGGT
others(1347): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTG
 1 a0001c0022t0001g0021
a0001c0022t0001g0021
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2683+3036_2683+303
others(1358): Show 
c.2683+3036_2683+3037insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTTGGGT
others(1271): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGA
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0022t0001g0008
a0001c0022t0001g0008
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.2683+3036_2683+303
others(1282): Show 
c.2683+3036_2683+3037insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500695 T
T
 TGTTGGGT
others(1307): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGA
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTG
 1 a0001c0022t0001g0131
a0001c0022t0001g0131
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.2683+3036_2683+303
others(1318): Show 
c.2683+3036_2683+3037insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500695
chr21:45500697 T
T
 TGTGTGTT
others(296): Show 
TGTGTGTTGGGTGTGTAGTGTGAGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTG
 2 a0001c0041t0001g0155
a0018c0095t0001g0146
a0001c0041t0001g0155
a0018c0095t0001g0146
 2 HG02145.hp1
NA21309.hp1
HG02145.hp1
NA21309.hp1
 intron_variant MODIFIER c.2683+3057_2683+305
others(307): Show 
c.2683+3057_2683+3058insAGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500697
chr21:45500697 T
T
 TGTGTGTT
others(134): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 4 a0001c0069t0005g0038
a0008c0018t0005g0130
a0008c0018t0005g0132
others(1): Show 
a0001c0069t0005g0038
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 4 HG02109.hp2
HG02630.hp2
HG03453.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2683+3076_2683+307
others(145): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500697
chr21:45500697 T
T
 TGTGTGTT
others(132): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0008c0018t0005g0067
a0008c0018t0005g0067
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.2683+3076_2683+307
others(143): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500697
chr21:45500717 T
T
 TGGGGGTG
others(106): Show 
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTG
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.2683+3076_2683+307
others(117): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500717
chr21:45500719 G
G
 A
A
 13 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(10): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 13 HG00544.hp1
HG00733.hp2
HG02683.hp1
others(10): Show 
HG00544.hp1
HG00733.hp2
HG02683.hp1
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.2683+3058G>A
c.2683+3058G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500719
chr21:45500731 G
G
 GGTGGGT
GGTGGGT
 44 a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
others(41): Show 
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0003g0143
a0001c0003t0001g0289
a0001c0004t0001g0225
a0001c0005t0002g0158
a0001c0011t0001g0050
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0090t0002g0089
a0002c0084t0002g0212
a0007c0031t0002g0123
a0007c0031t0002g0160
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
 44 HG00280.hp2
HG00323.hp2
HG00408.hp2
others(41): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18953.hp2
NA18966.hp1
NA18975.hp2
NA18990.hp1
NA18998.hp1
NA19002.hp1
NA19005.hp1
NA19012.hp1
NA19091.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(10): Show 
c.2683+3073_2683+3074insGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGGGTG
others(184): Show 
GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(195): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGGGTG
others(1050): Show 
GGTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGT
 1 a0007c0034t0001g0141
a0007c0034t0001g0141
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.2683+3073_2683+307
others(1061): Show 
c.2683+3073_2683+3074insGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGTGT
GGTGTGT
 62 a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0192
others(59): Show 
a0001c0001t0001g0033
a0001c0001t0001g0142
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0004t0001g0071
a0001c0004t0001g0214
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0038t0004g0029
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0089t0001g0119
a0002c0012t0004g0058
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0103t0001g0136
a0006c0026t0001g0083
a0006c0026t0003g0219
a0009c0016t0001g0084
a0010c0014t0001g0279
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0032c0052t0002g0077
 62 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(59): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01361.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03239.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2683+3071_2683+307
others(10): Show 
c.2683+3071_2683+3076dupGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGTGTG
others(847): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGT
 2 a0003c0046t0001g0002
a0026c0044t0001g0037
a0003c0046t0001g0002
a0026c0044t0001g0037
 2 HG00733.hp2
HG02922.hp2
HG00733.hp2
HG02922.hp2
 intron_variant MODIFIER c.2683+3076_2683+307
others(858): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTTTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGTGTG
others(1631): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2683+3076_2683+307
others(1642): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGTGTG
others(545): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTG
TGT
 1 a0003c0010t0002g0068
a0003c0010t0002g0068
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.2683+3076_2683+307
others(556): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTAT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGATTGGTGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGTGTG
others(843): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
T
 10 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(7): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
 10 HG00544.hp1
HG04228.hp1
NA18964.hp2
others(7): Show 
HG00544.hp1
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.2683+3076_2683+307
others(854): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTCGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTAT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500731 G
G
 GGTGTGTG
others(1026): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
 1 a0001c0005t0002g0239
a0001c0005t0002g0239
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.2683+3076_2683+307
others(1037): Show 
c.2683+3076_2683+3077insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500731
chr21:45500734 GTGTTGGG
others(63): Show 
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTT
 G
G
 4 a0001c0001t0001g0128
a0001c0001t0002g0278
a0001c0001t0013g0276
others(1): Show 
a0001c0001t0001g0128
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0238
 4 HG00408.hp1
HG01081.hp2
HG01928.hp2
others(1): Show 
HG00408.hp1
HG01081.hp2
HG01928.hp2
NA19064.hp1
 intron_variant MODIFIER c.2683+3074_2683+314
others(74): Show 
c.2683+3074_2683+3143delTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500734
chr21:45500746 T
T
 G
G
 1 a0007c0034t0001g0141
a0007c0034t0001g0141
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.2683+3085T>G
c.2683+3085T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500746
chr21:45500752 G
G
 GGGGGTGT
others(62): Show 
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGT
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.2683+3112_2683+311
others(73): Show 
c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500752
chr21:45500764 T
T
 G
G
 1 a0001c0003t0001g0193
a0001c0003t0001g0193
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2683+3103T>G
c.2683+3103T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500764
chr21:45500765 G
G
 GGTGTGTT
others(1434): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTT
 1 a0030c0056t0001g0044
a0030c0056t0001g0044
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2683+3110_2683+311
others(1445): Show 
c.2683+3110_2683+3111insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGG
TGTGGTTTTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500765
chr21:45500765 G
G
 GGTGTGTT
others(1433): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTT
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2683+3110_2683+311
others(1444): Show 
c.2683+3110_2683+3111insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGT
GTGGTTTTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500765
chr21:45500765 GGTGT
GGTGT
 G
G
 41 a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
others(38): Show 
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0003t0001g0289
a0001c0004t0001g0225
a0001c0005t0002g0158
a0001c0005t0002g0224
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0090t0002g0089
a0002c0084t0002g0212
a0007c0031t0002g0123
a0007c0031t0002g0160
a0010c0014t0001g0279
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
 41 HG00280.hp2
HG00323.hp2
HG00408.hp2
others(38): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp1
HG01070.hp1
HG01074.hp1
HG01243.hp2
HG01255.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01981.hp2
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18953.hp1
NA18966.hp1
NA18990.hp1
NA18998.hp1
NA19002.hp1
NA19005.hp1
NA19091.hp1
 intron_variant MODIFIER c.2683+3113_2683+311
others(8): Show 
c.2683+3113_2683+3116delGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500765
chr21:45500769 T
T
 TGTGTGTG
others(103): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTG
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2683+3152_2683+315
others(114): Show 
c.2683+3152_2683+3153insGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500769
chr21:45500769 T
T
 TGTGTGTT
others(103): Show 
TGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTG
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2683+3114_2683+311
others(114): Show 
c.2683+3114_2683+3115insTGGGGTGTGTAGTGTGGGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500769
chr21:45500769 T
T
 TGTGTTGG
others(284): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0011t0001g0050
a0001c0011t0001g0050
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.2683+3112_2683+311
others(295): Show 
c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500769
chr21:45500769 T
T
 TGTTGGGT
others(1470): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGATGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTG
 2 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0037t0001g0062
a0001c0037t0001g0157
 2 HG02970.hp2
HG03195.hp1
HG02970.hp2
HG03195.hp1
 intron_variant MODIFIER c.2683+3110_2683+311
others(1481): Show 
c.2683+3110_2683+3111insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGATGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGG
TGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500769
chr21:45500769 T
T
 TGTTGGGT
others(1461): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTG
 1 a0005c0060t0001g0063
a0005c0060t0001g0063
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2683+3110_2683+311
others(1472): Show 
c.2683+3110_2683+3111insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGTGTAGTGTGGGGGTGTGGT
TTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTG
GTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500769
chr21:45500771 T
T
 TGTTGGGT
others(235): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 3 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
 3 HG01243.hp1
HG02258.hp1
HG02723.hp2
HG01243.hp1
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.2683+3112_2683+311
others(246): Show 
c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500771
chr21:45500771 T
T
 TGTTGGGT
others(244): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TG
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.2683+3112_2683+311
others(255): Show 
c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500771
chr21:45500771 T
T
 TGTTGGGT
others(288): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 2 a0001c0002t0002g0091
a0001c0055t0003g0152
a0001c0002t0002g0091
a0001c0055t0003g0152
 2 HG03834.hp1
NA19012.hp1
HG03834.hp1
NA19012.hp1
 intron_variant MODIFIER c.2683+3112_2683+311
others(299): Show 
c.2683+3112_2683+3113insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500771
chr21:45500815 GGGTGTGT
others(92): Show 
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTT
 G
G
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.2683+3162_2684-309
others(103): Show 
c.2683+3162_2684-3090delAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGTTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500815
chr21:45500816 G
G
 GGTGTGTA
others(565): Show 
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGT
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2684-3164_2684-316
others(576): Show 
c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500816
chr21:45500816 G
G
 GGTGTGTA
others(566): Show 
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGT
 1 a0001c0007t0002g0220
a0001c0007t0002g0220
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.2684-3164_2684-316
others(577): Show 
c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500816
chr21:45500825 T
T
 TGGGGTGT
others(272): Show 
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGT
TGGTGTGGGTGTGGTTGGTGTGTGTAGTGTGTGGGTGTGGGGTTGTGGTT
GGTGTGTGTGTGTTGGGTGTGTGTGGGGTGTGGTGTGGTGTGGGTGTGTT
GTGTGGGGGTGTGGTGGGTGTGTGGGGTGTGGTGTGGGGTGTGTTGGGTG
TGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGTTTGGGGTGTGTTGGGTGTGTA
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.2683+3165_2683+316
others(283): Show 
c.2683+3165_2683+3166insGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGTGTGGTTGGTGTGGGTGTGGTTGGTGTGTGTAGT
GTGTGGGTGTGGGGTTGTGGTTGGTGTGTGTGTGTTGGGTGTGTGTGGGG
TGTGGTGTGGTGTGGGTGTGTTGTGTGGGGGTGTGGTGGGTGTGTGGGGT
GTGGTGTGGGGTGTGTTGGGTGTGGGTGTGTAGTGTGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTGGGGTGTGTTGGGTGTG
TAG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500825
chr21:45500825 TGTG
TGTG
 T
T
 4 a0001c0001t0001g0150
a0001c0002t0001g0024
a0001c0003t0001g0289
others(1): Show 
a0001c0001t0001g0150
a0001c0002t0001g0024
a0001c0003t0001g0289
a0001c0064t0001g0061
 4 HG01261.hp2
HG02135.hp1
HG02135.hp2
others(1): Show 
HG01261.hp2
HG02135.hp1
HG02135.hp2
HG03710.hp1
 intron_variant MODIFIER c.2683+3166_2683+316
others(7): Show 
c.2683+3166_2683+3168delTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500825
chr21:45500825 TGTGGGGG
others(70): Show 
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTG
 T
T
 34 a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
others(31): Show 
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0004t0001g0225
a0001c0005t0002g0158
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0062t0002g0097
a0001c0090t0002g0089
a0002c0084t0002g0212
a0007c0031t0002g0123
a0007c0031t0002g0160
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
 34 HG00280.hp2
HG00323.hp2
HG00408.hp2
others(31): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp1
HG01070.hp1
HG01074.hp1
HG01243.hp2
HG01255.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG02083.hp1
HG02132.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
NA18612.hp1
NA18944.hp2
NA18945.hp2
NA18966.hp1
NA18990.hp1
NA18998.hp1
NA19002.hp1
NA19005.hp1
NA19091.hp1
 intron_variant MODIFIER c.2683+3166_2684-310
others(81): Show 
c.2683+3166_2684-3108delTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500825
chr21:45500837 GTTTGGTG
others(67): Show 
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGT
 G
G
 3 a0001c0002t0001g0024
a0001c0003t0001g0289
a0001c0064t0001g0061
a0001c0002t0001g0024
a0001c0003t0001g0289
a0001c0064t0001g0061
 3 HG02135.hp1
HG02135.hp2
HG03710.hp1
HG02135.hp1
HG02135.hp2
HG03710.hp1
 intron_variant MODIFIER c.2684-3163_2684-309
others(78): Show 
c.2684-3163_2684-3090delTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500837
chr21:45500841 G
G
 GGT
GGT
 40 a0001c0001t0001g0128
a0001c0001t0001g0266
a0001c0001t0002g0278
others(37): Show 
a0001c0001t0001g0128
a0001c0001t0001g0266
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0140
a0001c0002t0002g0238
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0055t0003g0152
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
a0026c0044t0001g0037
 40 HG00280.hp1
HG00408.hp1
HG00544.hp1
others(37): Show 
HG00280.hp1
HG00408.hp1
HG00544.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01981.hp1
HG02683.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03654.hp1
HG03834.hp1
HG03942.hp1
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18975.hp2
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19064.hp1
NA19088.hp2
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.2684-3165_2684-316
others(6): Show 
c.2684-3165_2684-3164dupGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500841
chr21:45500841 G
G
 GGTGTGTG
others(544): Show 
GGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GT
 1 a0001c0038t0004g0029
a0001c0038t0004g0029
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2684-3164_2684-316
others(555): Show 
c.2684-3164_2684-3163insGTTGGGTGTGTAGTGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500841
chr21:45500841 G
G
 GGTGTGTG
others(539): Show 
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGCTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2684-3164_2684-316
others(550): Show 
c.2684-3164_2684-3163insGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
CTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500841
chr21:45500841 G
G
 GGTGTGTT
others(113): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGT
 1 a0001c0006t0003g0079
a0001c0006t0003g0079
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.2684-3127_2684-300
others(124): Show 
c.2684-3127_2684-3008dupGTGTTGGGTGTGTAGTGTGGGGGTGT
GTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500841
chr21:45500846 G
G
 GTGTGTGT
others(875): Show 
GTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
 3 a0001c0041t0001g0155
a0018c0095t0001g0146
a0019c0096t0015g0045
a0001c0041t0001g0155
a0018c0095t0001g0146
a0019c0096t0015g0045
 3 HG02145.hp1
HG02280.hp1
NA21309.hp1
HG02145.hp1
HG02280.hp1
NA21309.hp1
 intron_variant MODIFIER c.2684-3164_2684-316
others(886): Show 
c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT
ATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
TTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500846
chr21:45500846 G
G
 GTGTGTGT
others(836): Show 
GTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
 2 a0011c0040t0001g0046
a0011c0104t0002g0003
a0011c0040t0001g0046
a0011c0104t0002g0003
 2 HG02258.hp2
HG02717.hp2
HG02258.hp2
HG02717.hp2
 intron_variant MODIFIER c.2684-3164_2684-316
others(847): Show 
c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT
ATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
TTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500846
chr21:45500846 G
G
 GTGTGTGT
others(835): Show 
GTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGATTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
 1 a0011c0040t0001g0076
a0011c0040t0001g0076
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2684-3164_2684-316
others(846): Show 
c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT
ATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
TTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500846
chr21:45500875 GGTGT
GGTGT
 G
G
 4 a0001c0001t0001g0128
a0001c0001t0002g0278
a0001c0001t0013g0276
others(1): Show 
a0001c0001t0001g0128
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0238
 4 HG00408.hp1
HG01081.hp2
HG01928.hp2
others(1): Show 
HG00408.hp1
HG01081.hp2
HG01928.hp2
NA19064.hp1
 intron_variant MODIFIER c.2684-3127_2684-312
others(8): Show 
c.2684-3127_2684-3124delGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500875
chr21:45500879 T
T
 TGTGTGTG
others(29): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0080t0004g0057
a0001c0080t0004g0057
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2684-3101_2684-310
others(40): Show 
c.2684-3101_2684-3100insGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500879
chr21:45500879 T
T
 TGTGTTGG
others(25): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2684-3128_2684-312
others(36): Show 
c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500879
chr21:45500879 T
T
 TGTGTTGG
others(718): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGGAGTGTGGGGGTGTGGTTTG
 1 a0003c0010t0002g0068
a0003c0010t0002g0068
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.2684-3128_2684-312
others(729): Show 
c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGGAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500879
chr21:45500879 T
T
 TGTTGGGT
others(423): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGGAGTGTGGGGGTGTGGTTTG
 12 a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
others(9): Show 
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 12 HG00544.hp1
HG00733.hp2
HG02922.hp2
others(9): Show 
HG00544.hp1
HG00733.hp2
HG02922.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-3130_2684-312
others(434): Show 
c.2684-3130_2684-3129insTGGGTGTGTAGTGTGGGGGTGTGGAT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGAGTGTGGGGGTGTGGTT
TGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500879
chr21:45500881 T
T
 TGTGTGGG
others(1753): Show 
TGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTG
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2684-3125_2684-312
others(1764): Show 
c.2684-3125_2684-3124insGGGTGTGTAGTGTGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTTGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TGTGTGGG
others(858): Show 
TGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GTTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTTGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTG
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2684-3125_2684-312
others(869): Show 
c.2684-3125_2684-3124insGGGTGTGTAGTGTGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGTTGTGTAGTGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTG
TGTTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTT
TGGTGTGTGTTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TGTGTGTT
others(461): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTATGGTTTG
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.2684-3101_2684-310
others(472): Show 
c.2684-3101_2684-3100insGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TGTTGGGT
others(315): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTG
 3 a0001c0002t0002g0140
a0002c0020t0001g0010
a0002c0021t0002g0001
a0001c0002t0002g0140
a0002c0020t0001g0010
a0002c0021t0002g0001
 3 HG00738.hp2
HG01081.hp1
HG02965.hp1
HG00738.hp2
HG01081.hp1
HG02965.hp1
 intron_variant MODIFIER c.2684-3128_2684-312
others(326): Show 
c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TGTTGGGT
others(280): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2684-3128_2684-312
others(291): Show 
c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TGTTGGGT
others(277): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0012c0088t0002g0006
a0012c0088t0002g0006
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2684-3128_2684-312
others(288): Show 
c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TGTTGGGT
others(279): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 9 a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
others(6): Show 
a0001c0001t0001g0266
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0009c0016t0001g0209
 9 HG00280.hp1
HG00733.hp1
HG01123.hp1
others(6): Show 
HG00280.hp1
HG00733.hp1
HG01123.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-3128_2684-312
others(290): Show 
c.2684-3128_2684-3127insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500881
chr21:45500881 T
T
 TTGGGTGT
others(358): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTATGGTTTG
 1 a0028c0097t0001g0036
a0028c0097t0001g0036
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-3130_2684-312
others(369): Show 
c.2684-3130_2684-3129insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500881
chr21:45500891 G
G
 GTGTGTAG
others(1084): Show 
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
 1 a0004c0091t0001g0056
a0004c0091t0001g0056
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2684-3101_2684-310
others(1095): Show 
c.2684-3101_2684-3100insGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTG
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
GGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTG
TAGTGTGGGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500891
chr21:45500899 TGTG
TGTG
 T
T
 4 a0001c0001t0001g0128
a0001c0001t0002g0278
a0001c0001t0013g0276
others(1): Show 
a0001c0001t0001g0128
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0002g0238
 4 HG00408.hp1
HG01081.hp2
HG01928.hp2
others(1): Show 
HG00408.hp1
HG01081.hp2
HG01928.hp2
NA19064.hp1
 intron_variant MODIFIER c.2684-3110_2684-310
others(7): Show 
c.2684-3110_2684-3108delTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500899
chr21:45500902 G
G
 GGGGGTGT
others(30): Show 
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2684-3101_2684-310
others(41): Show 
c.2684-3101_2684-3100insGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500902
chr21:45500902 G
G
 GGGGGTGT
others(134): Show 
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2684-3101_2684-310
others(145): Show 
c.2684-3101_2684-3100insGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500902
chr21:45500911 T
T
 G
G
 191 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(188): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0266
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0062t0002g0097
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0007c0031t0002g0123
a0007c0031t0002g0160
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0017c0043t0002g0015
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 191 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(188): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18944.hp2
NA18945.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp1
NA18990.hp2
NA18998.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-3100T>G
c.2684-3100T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500911
chr21:45500912 T
T
 TTGGTGTG
others(737): Show 
TTGGTGTGTGGTGTGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTTGGGTGTGTTGTGTGGGGGGTGTGGTTGGTGTGGGTGTGTTGGGTG
TGTTGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGGTGTGGTGGGTGGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGTGTGGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-3098_2684-309
others(748): Show 
c.2684-3098_2684-3097insGGTGTGTGGTGTGTGTGTGTGTGTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGGTGTAGTGTGGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTTGTGTGGGGGGTGTG
GTTGGTGTGGGTGTGTTGGGTGTGTTGTGTGGGGGTGTGGTTTGGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGTGTGGTGGGTGGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500912
chr21:45500914 T
T
 G
G
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.2684-3097T>G
c.2684-3097T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500914
chr21:45500915 G
G
 GGT
GGT
 3 a0001c0002t0003g0143
a0034c0075t0001g0116
a0035c0078t0001g0115
a0001c0002t0003g0143
a0034c0075t0001g0116
a0035c0078t0001g0115
 3 HG02132.hp1
NA18953.hp2
NA18998.hp2
HG02132.hp1
NA18953.hp2
NA18998.hp2
 intron_variant MODIFIER c.2684-3085_2684-308
others(6): Show 
c.2684-3085_2684-3084dupGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500915
chr21:45500915 GGTGT
GGTGT
 G
G
 44 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(41): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0003t0001g0110
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0069t0005g0038
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0067t0001g0041
a0005c0036t0001g0292
a0010c0014t0001g0265
a0010c0014t0001g0275
a0031c0092t0011g0190
 44 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(41): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01993.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02258.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02723.hp2
HG02886.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG03486.hp1
HG03540.hp2
HG03927.hp1
HG04184.hp2
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19065.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.2684-3087_2684-308
others(8): Show 
c.2684-3087_2684-3084delGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500915
chr21:45500915 GGTGTGT
GGTGTGT
 G
G
 5 a0001c0001t0001g0191
a0001c0037t0001g0062
a0001c0037t0001g0157
others(2): Show 
a0001c0001t0001g0191
a0001c0037t0001g0062
a0001c0037t0001g0157
a0005c0060t0001g0063
a0030c0056t0001g0044
 5 HG02818.hp2
HG02970.hp2
HG03195.hp1
others(2): Show 
HG02818.hp2
HG02970.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp2
 intron_variant MODIFIER c.2684-3089_2684-308
others(10): Show 
c.2684-3089_2684-3084delGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500915
chr21:45500917 T
T
 TGTGTGTG
others(712): Show 
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTG
 1 a0006c0028t0003g0230
a0006c0028t0003g0230
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2684-3048_2684-304
others(723): Show 
c.2684-3048_2684-3047insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500917 T
T
 TGTGTTGG
others(1272): Show 
TGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGGTGTGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTGGGTGT
GTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGGGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2684-3090_2684-308
others(1283): Show 
c.2684-3090_2684-3089insTGGGTGTGTAGTGTGGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGGGGTGTGGTTGGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGGGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTGTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500917 T
T
 TGTGTTGG
others(1266): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGGTGTGGGTG
TGTGTGGGGGGGTGTGGTTGGGGTGTGTTGGGGGTGTGTGTGGGGTGTGG
TGGGTGTGGTGGGTGTGTGTGGGTGGGGTGTGGTGGGGTGTGTTTGGGTG
TGGGGGGGGGGGTGGTGTGTGTGTGTGGGGGTGTGGGGTGGGGGGTGGTG
GGTGTGGTGGGTGTGTAGTGTGGGGGTGGGGTTGGTGTGTGGGGTGTGTG
GGTGTGGGGTGTGGGGGTGGGTGTGTGTGGGTGGTGGTAGTGTGGGGTGT
GGTTGGTGGGGTGGGTGTGTGGGTGGGGGTGTGGTTTGGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGGTGGGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTTGTGGGGGGGGTGGTTG
GGGGTGGTGGGGGGTGTGGTGGGGGGGGTGTGGTGTGTTGGGTGTGTTGT
GGGGGTGGGTGGGGGTGTTGGGTGGGGTGTGGGGGGGGGGTGGGTGGGGG
TGGTGGGGGTTGGGGGTGTGTGGGGGTGGGGGGTGGGGGGTGGGTGGGTG
TGTGGGGGGTGGGGTGGTGGTGGGTGGGGGTGTGTAGTGTGGGGGTATGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTG
 1 a0002c0020t0001g0011
a0002c0020t0001g0011
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2684-3090_2684-308
others(1277): Show 
c.2684-3090_2684-3089insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGGGTGTGGGTGTGTGTGGGGGGGTGTGGTTGGGGTGTGTTGG
GGGTGTGTGTGGGGTGTGGTGGGTGTGGTGGGTGTGTGTGGGTGGGGTGT
GGTGGGGTGTGTTTGGGTGTGGGGGGGGGGGTGGTGTGTGTGTGTGGGGG
TGTGGGGTGGGGGGTGGTGGGTGTGGTGGGTGTGTAGTGTGGGGGTGGGG
TTGGTGTGTGGGGTGTGTGGGTGTGGGGTGTGGGGGTGGGTGTGTGTGGG
TGGTGGTAGTGTGGGGTGTGGTTGGTGGGGTGGGTGTGTGGGTGGGGGTG
TGGTTTGGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GGTGGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTTGTGGGGGGGGTGGTTGGGGGTGGTGGGGGGTGTGGTGGGGGGGGTGT
GGTGTGTTGGGTGTGTTGTGGGGGTGGGTGGGGGTGTTGGGTGGGGTGTG
GGGGGGGGGTGGGTGGGGGTGGTGGGGGTTGGGGGTGTGTGGGGGTGGGG
GGTGGGGGGTGGGTGGGTGTGTGGGGGGTGGGGTGGTGGTGGGTGGGGGT
GTGTAGTGTGGGGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500917 T
T
 TGTGTTGG
others(1269): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTA
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0002c0021t0002g0186
a0002c0021t0002g0186
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.2684-3090_2684-308
others(1280): Show 
c.2684-3090_2684-3089insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500917 T
T
 TGTGTTGG
others(1269): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0012c0065t0002g0096
a0012c0065t0002g0096
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2684-3090_2684-308
others(1280): Show 
c.2684-3090_2684-3089insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500917 T
T
 TGTGTTGG
others(1455): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTG
 1 a0002c0021t0002g0148
a0002c0021t0002g0148
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2684-3090_2684-308
others(1466): Show 
c.2684-3090_2684-3089insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500917 T
T
 TGTGTTGG
others(1233): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0009c0016t0001g0084
a0009c0016t0001g0084
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.2684-3090_2684-308
others(1244): Show 
c.2684-3090_2684-3089insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500917
chr21:45500919 T
T
 TGTGTTGG
others(1046): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTCTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTG
 1 a0001c0004t0001g0090
a0001c0004t0001g0090
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1057): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTCTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500919 T
T
 TGTGTTGG
others(1083): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1094): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500919 T
T
 TGTGTTGG
others(1084): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0004t0001g0222
a0001c0004t0001g0222
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1095): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500919 T
T
 TGTGTTGG
others(1083): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0005c0058t0001g0165
a0005c0058t0001g0165
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1094): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500919 T
T
 TGTGTTGG
others(167): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0005t0002g0239
a0001c0005t0002g0239
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(178): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500919 T
T
 TGTGTTGG
others(647): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTG
TGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTGGGGGTGTGTAGTGTGGGGGTGTG
GTTTG
 1 a0010c0014t0001g0279
a0010c0014t0001g0279
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(658): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500919 T
T
 TGTGTTGG
others(1610): Show 
TGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGTTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTAT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTG
 1 a0001c0005t0002g0224
a0001c0005t0002g0224
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1621): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGTTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGTTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500919
chr21:45500921 T
T
 TGTTGGGT
others(1831): Show 
TGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTG
TGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0008g0166
a0001c0003t0008g0166
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1842): Show 
c.2684-3088_2684-3087insTGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1032): Show 
TGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGT
GTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0007t0002g0220
a0001c0007t0002g0220
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1043): Show 
c.2684-3088_2684-3087insTGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1736): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTTGTGTGGGGGTGTGGTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
GGTGTGTGTTGGGTGTGTAGGTGTGGGGGTGTGGTTGGTGTGTTGGGTGT
GTGTGTGGGGGTGTGGTTGGGTGTGTGTGTTGGGTGTGTGTGTGGGTGTG
GTTTGGTGTGTGTTGGTGTGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTGTGTGGGGGTGTGGTTTGGTGTGTGTGGGGTGTGTAGT
GTGGGGGTGGGTTGGGTGTGTGTGGTGTGTGTGTGGGGGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTGGGTGTGTA
GTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGGGTTGGTGTGTGTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGT
GTGGTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGTAGTGTGGGGGTGTGG
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGGGTGTGTGGG
TGTGTAGTGTGGGGGTGTGGTGGTGTTGGGTGTGTAGTGTGGGGGTGTGG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGGTGGTGTGGT
GTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0001g0193
a0001c0003t0001g0193
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1747): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGGGTGTGTTGTGTGGG
GGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGGTGTGGGGG
TGTGGTTGGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTTGGGTGTGTGTG
TTGGGTGTGTGTGTGGGTGTGGTTTGGTGTGTGTTGGTGTGTGTGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTTT
GGTGTGTGTGGGGTGTGTAGTGTGGGGGTGGGTTGGGTGTGTGTGGTGTG
TGTGTGGGGGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTG
GTGTGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGG
TGTGGGTTGGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGGTGTGGTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGGGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTGGTGTTGG
GTGTGTAGTGTGGGGGTGTGGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTGGGTGGTGTGGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2462): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGGGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTACTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTTTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTG
 1 a0008c0101t0005g0027
a0008c0101t0005g0027
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(2473): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAC
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTTTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2463): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTACTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTTT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTG
 2 a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0067
a0008c0018t0005g0130
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(2474): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
CTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTTTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2461): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTACTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTTTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTG
 1 a0008c0018t0005g0132
a0008c0018t0005g0132
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(2472): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAC
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTTTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2406): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GTGTGGTTGGTGTGTGTGTGTGTGTGGGGGTGTGGTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTGTGTGGGG
GTGGTTTGGTGTGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGTGTG
GGGTGTGGTTTGGTGTGTTGGGTGTGTGTGGGGGGTGTGGGGGTGGGTGT
GTGGGGGGTGTGTGTGGGGGGGGGTGGGTGGTGGGTGTGGGTGGGGGTGT
GGGGGTGGGGGTGGTGTGTGGTGGGGGTGTGGGTGGGGTGTGGTGGTGGG
TGTGGTGTGGGGGGTGTGGTGTGGGGTGTGGGTGGGGTGTGGTGTGGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGGTGGTGTGGGGGTGT
GGTTTGGTGTGGTGTGGTGTGTGTGGGGGTGTGGTTTGGTGTGTGTGTGG
GTGTGTGTGTGGGGGTGGTGGTGTGGTGTGTGTTGGGTGTGTGGTGTGGG
GGTGTGGTTTTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGGTGTTGGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGTG
TGGTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTTTGTGTGTG
TGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGGGTGGTGTGGTGTGTGGGTGGGTGTGTGGGGGTGGGGTGTG
GTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGGGGTGTGTGTGGGGGGTGTG
GTTTGGTGTGTTGGGTGGTGTGTGGGGGGTGTGGTGGTGTGTGTTGGGTG
TGTGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTGTGTGGGGGTGT
GGTTGGTGTGTGTTGGGGTGTGTGTGGGGGGTGTGGTTTTGTGTTTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGGTGGGTGTG
GGGGTGTGGTGGGGGTGTGGTTGGGTGTGTTGGGTGTGTGGTGGGGGTGT
GGTTGGGTGTGTGTGGGGTGTGTTTGTGGGGGTGTGGTGTTGGGTGTGTG
TGGGGGGGGTGTGGGGTGTGGTGGTGTGGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTG
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(2417): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTGGTGT
GTGTGTGTTGGGTGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTTGGGTGTGTAGTGTGGGGTGTGGTTGGTGTGTGTGTGTGTGTGGGG
GTGTGGTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGT
GTGTTGGGTGTGTGTGTGGGGGTGGTTTGGTGTGTGTGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTGTGTGGGGTGTGGTTTGGTGTGTTGGGTGTGTGT
GGGGGGTGTGGGGGTGGGTGTGTGGGGGGTGTGTGTGGGGGGGGGTGGGT
GGTGGGTGTGGGTGGGGGTGTGGGGGTGGGGGTGGTGTGTGGTGGGGGTG
TGGGTGGGGTGTGGTGGTGGGTGTGGTGTGGGGGGTGTGGTGTGGGGTGT
GGGTGGGGTGTGGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGGTGGTGTGGGGGTGTGGTTTGGTGTGGTGTGGTGTGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGGGTGTGTGTGTGGGGGTGGTGGTGTGGTGT
GTGTTGGGTGTGTGGTGTGGGGGTGTGGTTTTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGGTGTTGGTGTGTGTGGGTGTGTA
GTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTG
TTGGGTGTGTAGTGTGGGGTGTGGTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTTGGGTGTGTGTG
TGGGGGTGTGGTTTGTGTGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGGTGGTGTGGTGTGTGGGTG
GGTGTGTGGGGGTGGGGTGTGGTGTGGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GGGGTGTGTGTGGGGGGTGTGGTTTGGTGTGTTGGGTGGTGTGTGGGGGG
TGTGGTGGTGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTGTGTGGGGGTGTGGTTGGTGTGTGTTGGGGTGTGTGTGGGG
GGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGGTGGGTGTGGGGGTGTGGTGGGGGTGTGGTTGGGTGTG
TTGGGTGTGTGGTGGGGGTGTGGTTGGGTGTGTGTGGGGTGTGTTTGTGG
GGGTGTGGTGTTGGGTGTGTGTGGGGGGGGTGTGGGGTGTGGTGGTGTGG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1982): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGTGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGGTGTGGTGTGTGGT
TGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0001g0005
a0001c0003t0001g0005
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1993): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTTTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGTTGGGT
GTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGGTGTGGTGTGTGGTTGTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1618): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTG
 2 a0001c0001t0001g0142
a0001c0002t0012g0109
a0001c0001t0001g0142
a0001c0002t0012g0109
 2 HG02145.hp2
HG02809.hp2
HG02145.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1629): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(598): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTG
 4 a0001c0003t0001g0048
a0001c0004t0001g0214
a0022c0068t0010g0004
others(1): Show 
a0001c0003t0001g0048
a0001c0004t0001g0214
a0022c0068t0010g0004
a0024c0066t0010g0066
 4 HG02895.hp2
HG03688.hp2
HG03942.hp2
others(1): Show 
HG02895.hp2
HG03688.hp2
HG03942.hp2
NA19240.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(609): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1784): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGGTGTGTGTTGGGGGTGGTGTGGTGTGGGGGGTGTGGTGG
GTGGTGGGTGTGGGGGGGTGTGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
TGTGTAGTGTGGGGGGTGGTTGGGGGGGGGGGTGGGTGTGTGGGGGTGTG
GTGGTGTGTGTTGGGTGGGTGTAGTGTGGGGGGGTGGTGGTGTGGGGGGG
GGGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGGGTGTGTGTGTGGGG
GTGTGGGTTGGGTGTGTGTGGGGGGTGTGGTGTGGGGGTGTGGTTTGGTG
TGTGTGGGGTGTGGTAGTGTGGGGGGGTGGTTTGGGGGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGTGTGGTGGGGGTGTTGGGGTGTGGTGGG
TGGGGGTGTGGTGGGTGTGTGTGTTGGGTGTGTTGTGTGGGGGGTGTGGT
GGTGGGGTGGGTGTGTAGGTGTGGGGTGTGGTTGGTGTGTGGGTGTGGTG
TGGGGGTTGTGGTGGTGGGGTGTGTGGGGTGTGTGTGGGGGGGTGTGGTG
TGGGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGG
TGTTGGTGTGGGGGTGTGGTGTGGTGTGTGTGGGGGTGTTGTGTGGGGTG
TGGGTTTTGTGTGTGTGTGGGGGGTGTGTGTGTGGGGGTGTGGTTTGGGT
GGTGGTGTGGGGGTGTGTGTGGGGGGTGTGGTGTGGGGTGGTGTGTGGGG
GTGTGGTGTGGTGGGTGTGGGTGGGTGTGGGGTGGTGTGGGGGGGTGGGT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTGTGGTGTGTGTGGGT
GTGTGTGTGGGGGGTGTGGTTTGGGTGTGGTTGGGGTGTGTAGTGGGGGG
GTGTGTGGGTGTGTGTTGGGTGTGTTGTGTGGGTGTGTGGGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0021c0086t0002g0176
a0021c0086t0002g0176
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1795): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGGTGTGTGTTGGGGGTGGT
GTGGTGTGGGGGGTGTGGTGGGTGGTGGGTGTGGGGGGGTGTGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGTGTGTAGTGTGGGGGGTGGTTGGGGGGGG
GGGTGGGTGTGTGGGGGTGTGGTGGTGTGTGTTGGGTGGGTGTAGTGTGG
GGGGGTGGTGGTGTGGGGGGGGGGTGTAGTGTGGGGGGTGTGGTTTGGTG
TGTGTGGGTGTGTGTGTGGGGGTGTGGGTTGGGTGTGTGTGGGGGGTGTG
GTGTGGGGGTGTGGTTTGGTGTGTGTGGGGTGTGGTAGTGTGGGGGGGTG
GTTTGGGGGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGGTG
GGGGTGTTGGGGTGTGGTGGGTGGGGGTGTGGTGGGTGTGTGTGTTGGGT
GTGTTGTGTGGGGGGTGTGGTGGTGGGGTGGGTGTGTAGGTGTGGGGTGT
GGTTGGTGTGTGGGTGTGGTGTGGGGGTTGTGGTGGTGGGGTGTGTGGGG
TGTGTGTGGGGGGGTGTGGTGTGGGTGTGTGTGGGTGTGTAGTGTGGGGG
TGTGGTTGGTGTGTGTTGGGGTGTTGGTGTGGGGGTGTGGTGTGGTGTGT
GTGGGGGTGTTGTGTGGGGTGTGGGTTTTGTGTGTGTGTGGGGGGTGTGT
GTGTGGGGGTGTGGTTTGGGTGGTGGTGTGGGGGTGTGTGTGGGGGGTGT
GGTGTGGGGTGGTGTGTGGGGGTGTGGTGTGGTGGGTGTGGGTGGGTGTG
GGGTGGTGTGGGGGGGTGGGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGG
TGTGGTGTGGTGTGTGTGGGTGTGTGTGTGGGGGGTGTGGTTTGGGTGTG
GTTGGGGTGTGTAGTGGGGGGGTGTGTGGGTGTGTGTTGGGTGTGTTGTG
TGGGTGTGTGGGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1755): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTG
 1 a0001c0025t0002g0159
a0001c0025t0002g0159
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1766): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1771): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTGTTGGGTGTGTTGGTGGGGGGTGTGTGTGT
GTGGGGGTGTGTTGGTGGGGTGTGGTTGGGTGTGTGTGTGGGGGGTGGTT
GGGTGGGGGTGTGGGTGTGGGGTGGGGTGGGTGTGTGTGTGGGGGTGTGG
TGTGGGGGTGTGGTGTGTGTGGGTGTGTGGGGTGGGGGGGGGGGGTGTGG
TGTGTGTGGGGTGTTGGGTGTGTGGGGGGGTGTGGTTGGTGTGTGGTGGG
TGTGTGTGGGGGGTGTGGTGTGGTGGGGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGGGTGGTGGTTGTGTG
TGGGTGGGTGTGTGGGGTGTGGGGGTGTGGTGTGGTGTGTGTGGGGGGTG
TGTGTGGGGGTGTGGGTGTGTGGTGTGGGGGTGTGGGTGTGGGGGTGTGG
TTTGTGTGTGGGTGTTGGTGTGTGGTGTGGGGGTGTGGTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGGGTGTGTGG
GGGGTGGGTTTGGGGTGTGTGGGGTGGGTGGGGGGGGGGTGTGGTTGTGT
GGGGGTGTGGGTGTGGTGTGGGGGGGGTGGTGGGGTGTGGGGGTGTGGTG
GGGGGTGTGGTTTGGTGTGGGGGTGGGGTGTGGTGTGTGGGGGTGTGGGT
GGTGGGGTGGTGTTGGGTGTGGGGGTGTGGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTGTGTGGGGGGTGTGGTTTG
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1782): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGTTGGGTGT
GTTGGTGGGGGGTGTGTGTGTGTGGGGGTGTGTTGGTGGGGTGTGGTTGG
GTGTGTGTGTGGGGGGTGGTTGGGTGGGGGTGTGGGTGTGGGGTGGGGTG
GGTGTGTGTGTGGGGGTGTGGTGTGGGGGTGTGGTGTGTGTGGGTGTGTG
GGGTGGGGGGGGGGGGTGTGGTGTGTGTGGGGTGTTGGGTGTGTGGGGGG
GTGTGGTTGGTGTGTGGTGGGTGTGTGTGGGGGGTGTGGTGTGGTGGGGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGTGTGTAGTG
TGGGGGGGTGGTGGTTGTGTGTGGGTGGGTGTGTGGGGTGTGGGGGTGTG
GTGTGGTGTGTGTGGGGGGTGTGTGTGGGGGTGTGGGTGTGTGGTGTGGG
GGTGTGGGTGTGGGGGTGTGGTTTGTGTGTGGGTGTTGGTGTGTGGTGTG
GGGGTGTGGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGT
GTGTGTTGGGTGGGTGTGTGGGGGGTGGGTTTGGGGTGTGTGGGGTGGGT
GGGGGGGGGGTGTGGTTGTGTGGGGGTGTGGGTGTGGTGTGGGGGGGGTG
GTGGGGTGTGGGGGTGTGGTGGGGGGTGTGGTTTGGTGTGGGGGTGGGGT
GTGGTGTGTGGGGGTGTGGGTGGTGGGGTGGTGTTGGGTGTGGGGGTGTG
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGTGTGGGGGGTGTGGTTTG
GT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1754): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGCGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTG
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1765): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGCGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1713): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTG
 1 a0001c0032t0001g0147
a0001c0032t0001g0147
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1724): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGG
GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1678): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0001g0254
a0001c0003t0001g0254
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1689): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1717): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1728): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGT
GGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2267): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0006c0026t0001g0083
a0006c0026t0001g0083
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(2278): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATT
GTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1753): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTG
 17 a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
others(14): Show 
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0032t0001g0162
a0001c0033t0002g0169
a0001c0082t0008g0053
a0001c0089t0001g0119
a0006c0026t0003g0219
a0016c0042t0001g0118
 17 HG00099.hp2
HG00735.hp2
HG01106.hp1
others(14): Show 
HG00099.hp2
HG00735.hp2
HG01106.hp1
HG01123.hp2
HG01361.hp2
HG02129.hp1
HG02129.hp2
HG02602.hp2
HG02818.hp1
HG03017.hp1
HG03579.hp2
HG04204.hp2
NA18961.hp2
NA18990.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1764): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1677): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGT
TTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0003t0001g0182
a0001c0003t0001g0182
 1 HG01943.hp1
HG01943.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1688): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1641): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAT
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0004t0001g0071
a0001c0004t0001g0071
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1652): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1749): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGTTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTG
 1 a0001c0033t0002g0100
a0001c0033t0002g0100
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1760): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1716): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0025t0002g0164
a0001c0025t0002g0164
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1727): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTG
GGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1757): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTG
 1 a0001c0003t0001g0153
a0001c0003t0001g0153
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1768): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1752): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTGGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTG
 1 a0001c0007t0002g0208
a0001c0007t0002g0208
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1763): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1747): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTG
 1 a0001c0007t0002g0194
a0001c0007t0002g0194
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1758): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1718): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0063t0001g0144
a0001c0063t0001g0144
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1729): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAT
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1715): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGT
GTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTG
 1 a0002c0083t0001g0237
a0002c0083t0001g0237
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(1726): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTATTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2651): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTG
 1 a0001c0005t0002g0217
a0001c0005t0002g0217
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(2662): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
TTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
TTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1750): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTG
 3 a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 3 HG02559.hp1
HG02630.hp1
HG02895.hp1
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1761): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTT
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(2705): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGTGTGGTTTGTGTGTGTGTGTTGGGTGTGTAGGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGATGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGT
GTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTATGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTTGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGTGTGGTTTGGTGTGTTGGGTGTGAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGG
GTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGTGTGGTTTGGTGTGTTGGTGTGTAGTGTGGGGGTGTGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGTGTGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGT
GGTTTGGTGTGTGTTGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTTGTTGGTTTAGGGTGTTGGTGTGTAGTGTGG
GGTGTGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGT
GTGTAGGGTGTGTAGTGGGGTTGAGTTTGGTGTAGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTAGAGTGTT
TGGGTGTGTGTTTGTTGGGTGTGTAGTGTTGTTTGGTTTGTGTTGGGTGT
GTAGTGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGTG
TGTTTGGTGTTGTGTGAGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGGTTTGGTGTGTGTAGGGGTGGTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGATGTGGGGTGTGGTTTGGTGAGTGTTGGGTGTGCTAGT
GTGGGGTGTGGTTTGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGTGTGTTTGTGTGTGTGTTGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGGAGTGGGTGTAGAGTGGGGGTGT
GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTGTTTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGGTGTTGGGTGTGTA
GTGAGGGGGTGTGTTTGGTGTGTTGGTGTGTAGTGTGTGGGTGTGGATTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGGTGTGGGGTG
TGGTTTGGTGTGTTGTTGGGTGAGTAGTGTGGGGGTGTGGTTTTGTGTTT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTGTGTGTGAGTTGGGTGTG
TAGTGTGGGGGTGTGGTTGGTGTGTGATGGGTGTGTAGTGTGGGGGTGTG
GTTTGTGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTGTGTGTGTG
TGTTGGGTTGTAGTGGGGGGTGTGGTTGGTGTGTGTTGGTGTGTAGTGAG
GGGTGTGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGTGAGGTTGGTGTGTGTTGGGTGTGTACGTGTG
GGGGTGTGGTTTG
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2684-3088_2684-308
others(2716): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGTGTG
TGTGTGTTGGGTGTGTAGGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGATGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTATG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGGGTGT
GAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGGTGTGT
AGTGTGGGGGTGTGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTTGTTGGTTTA
GGGTGTTGGTGTGTAGTGTGGGGTGTGTTTGGTGTGTGTGTTGGGTGTGT
AGTGTGGGTGTGGTTTGGTGTGTGTAGGGTGTGTAGTGGGGTTGAGTTTG
GTGTAGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTAGAGTGTTTGGGTGTGTGTTTGTTGGGTGTGTAGTGT
TGTTTGGTTTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTG
TTGGGTGTGTAGTGTGGGGTGTGTTTGGTGTTGTGTGAGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGGTTTGGTGTGTGTAGGGGTGGTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGATTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGATGTGGGGTGTGGTTTG
GTGAGTGTTGGGTGTGCTAGTGTGGGGTGTGGTTTGGTGTGGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTGT
GTTTGTGTGTGTGTTGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGGA
GTGGGTGTAGAGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGTGTTTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTGGTGGTGTTGGGTGTGTAGTGAGGGGGTGTGTTTGGTGTGTTGGTGT
GTAGTGTGTGGGTGTGGATTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGGTGTGGGGTGTGGTTTGGTGTGTTGTTGGGTGAGTAGTG
TGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
TTTGTGTGTGAGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGATG
GGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGTGTTGGGTGTGTATTGTG
GGGGTGTGGTTTGTGTGTGTGTGTTGGGTTGTAGTGGGGGGTGTGGTTGG
TGTGTGTTGGTGTGTAGTGAGGGGTGTGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGTGAGGTTGGTG
TGTGTTGGGTGTGTACGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(598): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGT
GGTTTG
 1 a0002c0103t0001g0136
a0002c0103t0001g0136
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(609): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500921 T
T
 TGTTGGGT
others(1750): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTG
 1 a0002c0012t0004g0058
a0002c0012t0004g0058
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1761): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTT
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500921
chr21:45500923 T
T
 TTGGGTGT
others(1415): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTG
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1426): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500923
chr21:45500923 T
T
 TTGGGTGT
others(1193): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
G
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1204): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500923
chr21:45500923 T
T
 TTGGGTGT
others(1412): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTATAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTG
 2 a0036c0048t0004g0184
a0037c0049t0004g0183
a0036c0048t0004g0184
a0037c0049t0004g0183
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1423): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTATAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500923
chr21:45500923 T
T
 TTGGGTGT
others(1410): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTATAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTG
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.2684-3088_2684-308
others(1421): Show 
c.2684-3088_2684-3087insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTATAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500923
chr21:45500927 TTG
TTG
 T
T
 5 a0004c0099t0003g0030
a0004c0100t0001g0039
a0027c0070t0001g0012
others(2): Show 
a0004c0099t0003g0030
a0004c0100t0001g0039
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 5 HG02257.hp1
HG02809.hp1
HG02886.hp1
others(2): Show 
HG02257.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
 intron_variant MODIFIER c.2684-3083_2684-308
others(6): Show 
c.2684-3083_2684-3082delTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500927
chr21:45500931 G
G
 T
T
 5 a0004c0099t0003g0030
a0004c0100t0001g0039
a0027c0070t0001g0012
others(2): Show 
a0004c0099t0003g0030
a0004c0100t0001g0039
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 5 HG02257.hp1
HG02809.hp1
HG02886.hp1
others(2): Show 
HG02257.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
 intron_variant MODIFIER c.2684-3080G>T
c.2684-3080G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500931
chr21:45500932 T
T
 G
G
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-3079T>G
c.2684-3079T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500932
chr21:45500945 G
G
 GGTGTGGT
others(376): Show 
GGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTGTGGGGGTGTGGTGGTGTG
GTGGGGTGTAGTGTGGGGGTGGGTTGGGTGTGTGTGGGTGTGGGTGGGTG
TGTGGGTGTGTGGGTGGTGTGTGTGGGGTGTGGTTGGGGTGTGTGGGTGT
GTGGGTGGGTGTGTGGGGGGTGTGGTTGGGGTGTGTTGGGTGTGTGTGTG
GGGGGTGGGTGTGGTGTGGGTGTGGTGGGGGGTGTGGGTGTGTGTGGGGG
GTGTGGTTTGGTGGTGGGTGGGTGTGTGTGGGGGGGTGGTGGTGTGTGGG
TGTGGGTGGGGGGGGGTGGGGGTGTGGTGTGGGGGTGTGTGGGGTGTGAG
TGTGTGTGAGTTGGGTGTGTTGTGTGGGTGGTGT
 1 a0001c0001t0001g0277
a0001c0001t0001g0277
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.2684-3044_2684-304
others(387): Show 
c.2684-3044_2684-3043insGGGTGTGTGTGGGGGTGTGGTGGTGT
GGTGGGGTGTAGTGTGGGGGTGGGTTGGGTGTGTGTGGGTGTGGGTGGGT
GTGTGGGTGTGTGGGTGGTGTGTGTGGGGTGTGGTTGGGGTGTGTGGGTG
TGTGGGTGGGTGTGTGGGGGGTGTGGTTGGGGTGTGTTGGGTGTGTGTGT
GGGGGGTGGGTGTGGTGTGGGTGTGGTGGGGGGTGTGGGTGTGTGTGGGG
GGTGTGGTTTGGTGGTGGGTGGGTGTGTGTGGGGGGGTGGTGGTGTGTGG
GTGTGGGTGGGGGGGGGTGGGGGTGTGGTGTGGGGGTGTGTGGGGTGTGA
GTGTGTGTGAGTTGGGTGTGTTGTGTGGGTGGTGTGTGTGGTTTGGTGTG
TGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500945
chr21:45500954 T
T
 G
G
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2684-3057T>G
c.2684-3057T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500954
chr21:45500955 GGT
GGT
 G
G
 3 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
 3 HG01891.hp1
HG02723.hp1
NA20129.hp1
HG01891.hp1
HG02723.hp1
NA20129.hp1
 intron_variant MODIFIER c.2684-3045_2684-304
others(6): Show 
c.2684-3045_2684-3044delGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500955
chr21:45500955 GGTGT
GGTGT
 G
G
 43 a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
others(40): Show 
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0203
a0001c0001t0001g0243
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0002t0003g0143
a0001c0003t0001g0289
a0001c0004t0001g0225
a0001c0005t0002g0158
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0062t0002g0097
a0001c0064t0001g0061
a0001c0090t0002g0089
a0002c0084t0002g0212
a0007c0031t0002g0123
a0007c0031t0002g0160
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
 43 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(40): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00735.hp1
HG01070.hp1
HG01074.hp1
HG01081.hp2
HG01243.hp2
HG01255.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG04204.hp1
NA18612.hp1
NA18944.hp2
NA18945.hp2
NA18953.hp2
NA18966.hp1
NA18990.hp1
NA18998.hp1
NA19002.hp1
NA19005.hp1
NA19064.hp1
NA19091.hp1
 intron_variant MODIFIER c.2684-3047_2684-304
others(8): Show 
c.2684-3047_2684-3044delGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500955
chr21:45500959 T
T
 TGTGTGTG
others(69): Show 
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTG
 1 a0001c0008t0002g0268
a0001c0008t0002g0268
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.2684-3021_2684-302
others(80): Show 
c.2684-3021_2684-3020insTTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500959
chr21:45500959 T
T
 TGTGTTGG
others(25): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
 2 a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0023t0002g0138
a0004c0023t0002g0163
 2 HG01891.hp2
HG03225.hp1
HG01891.hp2
HG03225.hp1
 intron_variant MODIFIER c.2684-3048_2684-304
others(36): Show 
c.2684-3048_2684-3047insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500959
chr21:45500959 T
T
 TGTGTTGG
others(361): Show 
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGTGTGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTG
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2684-3048_2684-304
others(372): Show 
c.2684-3048_2684-3047insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGTTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GGGGTGTGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500959
chr21:45500961 T
T
 TGTGGGTG
others(552): Show 
TGTGGGTGGGGGTGTGTGGGGGTGTGGTTGGTGTGGTGTGGTGTGGGTGT
GTGTGTGGGGGTGTGGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGGTGGG
TGTGGTGTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTGGGTGGGTGTGTTGGGTGGTGTGGGGGGTGGG
GGGTGTGGGTGGTGGGTGTGTGGGTGTGGGGTGTGGTGGTGTGGGTGTGG
TGTGTGTGTGGGTGTGTAGGTGGGGGTGTGGTAGGTGTGTGGGGGTGGGT
GTGGGGGTGTGGTGGGTGTGTGTGTGTGGGTGGGTGTGGGGGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGGTGTGTGGGGGGTGTGGGTGTTGGTGGGG
TGTGTGGTGTGGGGGGTGTGGTTTGGTGTGTGTGGTGGGGTGGGGGGTGT
GGGGTGTGGGTGGGGTGGTGTGGTGTGGGGTGTGTAGTGTGGGGGGTGGG
TGGTGGTGTG
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2684-3047_2684-304
others(563): Show 
c.2684-3047_2684-3046insGGTGGGGGTGTGTGGGGGTGTGGTTG
GTGTGGTGTGGTGTGGGTGTGTGTGTGGGGGTGTGGGTTTGGTGTGTGTG
TGTGGGTGTGTAGTGGTGGGTGTGGTGTGGTGTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGGTGGGTGTGT
TGGGTGGTGTGGGGGGTGGGGGGTGTGGGTGGTGGGTGTGTGGGTGTGGG
GTGTGGTGGTGTGGGTGTGGTGTGTGTGTGGGTGTGTAGGTGGGGGTGTG
GTAGGTGTGTGGGGGTGGGTGTGGGGGTGTGGTGGGTGTGTGTGTGTGGG
TGGGTGTGGGGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGGTGTGTGGG
GGGTGTGGGTGTTGGTGGGGTGTGTGGTGTGGGGGGTGTGGTTTGGTGTG
TGTGGTGGGGTGGGGGGTGTGGGGTGTGGGTGGGGTGGTGTGGTGTGGGG
TGTGTAGTGTGGGGGGTGGGTGGTGGTGTGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500961
chr21:45500968 T
T
 G
G
 2 a0005c0036t0001g0245
a0028c0097t0001g0036
a0005c0036t0001g0245
a0028c0097t0001g0036
 2 HG02083.hp2
NA21309.hp2
HG02083.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-3043T>G
c.2684-3043T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500968
chr21:45500976 T
T
 G
G
 16 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(13): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0026c0044t0001g0037
 16 HG00544.hp1
HG00733.hp2
HG02647.hp1
others(13): Show 
HG00544.hp1
HG00733.hp2
HG02647.hp1
HG02683.hp1
HG02922.hp2
HG02965.hp2
HG04228.hp1
NA18522.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-3035T>G
c.2684-3035T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500976
chr21:45500976 T
T
 TAGTGTGG
others(479): Show 
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGG
 1 a0001c0011t0001g0050
a0001c0011t0001g0050
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.2684-3000_2684-299
others(490): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGGAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500976
chr21:45500991 G
G
 T
T
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.2684-3020G>T
c.2684-3020G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45500991
chr21:45500994 T
T
 TGGTGTGT
others(1621): Show 
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTGTGGGGGTGTGGTGTGGGGGTGTGTTGGGTGGGTGTGTTGT
GTGGGGGTGTGGTTGGGTGTGGTGTGTTGGTGTGGGGTGTGTGGGGGTGT
GGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGGGTGGTGTGTGTGGTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGGTGGTGTGTGGGTGTGGGGGTGTGGTGTGGGTGTGGT
TGGGTGTGTGGTGGGGGGTGGTGGTGTGGTGTGGGTGGGGTGGGGTGTGT
GGGTGGGGTGTGGGGGTGTGGTGGGTGTGGTTGGTGTGTGTTGGGTGTGT
GTGTGGGGGTGTGGTGGGGTGTGTGGTGTGTGTGTGGGGGGTGTGGTTGG
GGTGTGGTTGGGGTGTGTGGGGGTGTGTGGGGGTGTGGTGTGGGGGTGTG
TTGGGGGGTGTGTGTGGGGGTGTGGTGTGGTGTGTGTGGGTGGTGGTGTG
TGGGGGTGTGGTGTGGGGGTGGTGGTGTGGGTGTGTAGTGTGGGGGGTGT
GGTTTGGTGGGTGGTGGGGTGTGGGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTGGGGGGGGTGGGTGGGGGGTGTGGGGTGGGTGTGGGGGGGG
TGTGGTTTGGGGGTGGGTGTGGGGGGGTGTGGTGGGGGTGTGGTGTGGGG
TGTGGGTGGGGGTGTGGGGTGTGGGGTGTGGGTGTGTGTGTGGGGGGTGT
GGTGTGGGGGTGTGGTGTGGGGTGTGGTGTGGGGTGTGGTGTGGGGGTGT
GGTGTGGGTGGGGGTGTGGTGTGGGGGGTGTGGTGGGTGTGGGTGTGGGT
GGGGTGTGGTGTGGGTGTGGGTGTGGGGGGGGTGTGGGGGGGTGTGGGTG
GGGGTGGGGGTGGGTGTGTGGGGGTGGGTGTGTGGGGTGGGGGTGTGGTG
TGGGGGGGTGTGTGTGTGGGGGTGTGGTGTGTGGGTGTGGGGTGGGGTGT
GGTGTGGGGGTGTGGTGGGGGTGTGGTGGGGGTGTGGGGTGTGGGGGTGT
GGTGTGTGGTGGGGGTGTGTGGGGGGGTGTGGTGGGGGTGTGGGGTGTGG
TGTGGGGTGGGGTGTGGGGTGGGGGTTGGTGGGTGTGGGTGTGTGGGTGG
GGGGTGTGGGTGGGGGGTGTGGTGTGGTGTGTGGGGGTGTGGTGTGGGGT
GTGTGGTGTGGGGGTGTGGTGGTGTGGGTGGGTGGTGTGTGGGGGGTGTG
GTGGGGGTGTGGGTGTGGTGTGTGGGGGTGTGTGTGGGGGTGTGGTGTGG
TGGGTGTGTGTGTGTGGGGGGTGTGGTTG
 1 a0001c0003t0001g0261
a0001c0003t0001g0261
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1632): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGGTGTGTAGTGTGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTGTGGGGGTGTGGTGTGGGGGTGTGT
TGGGTGGGTGTGTTGTGTGGGGGTGTGGTTGGGTGTGGTGTGTTGGTGTG
GGGTGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGGGTGGTGTGTGTGG
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGGTGGTGTGTGGGTGTGGGGGT
GTGGTGTGGGTGTGGTTGGGTGTGTGGTGGGGGGTGGTGGTGTGGTGTGG
GTGGGGTGGGGTGTGTGGGTGGGGTGTGGGGGTGTGGTGGGTGTGGTTGG
TGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTGGGGTGTGTGGTGTGTGTG
TGGGGGGTGTGGTTGGGGTGTGGTTGGGGTGTGTGGGGGTGTGTGGGGGT
GTGGTGTGGGGGTGTGTTGGGGGGTGTGTGTGGGGGTGTGGTGTGGTGTG
TGTGGGTGGTGGTGTGTGGGGGTGTGGTGTGGGGGTGGTGGTGTGGGTGT
GTAGTGTGGGGGGTGTGGTTTGGTGGGTGGTGGGGTGTGGGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTGGGGGGGGTGGGTGGGGGGTGTGGG
GTGGGTGTGGGGGGGGTGTGGTTTGGGGGTGGGTGTGGGGGGGTGTGGTG
GGGGTGTGGTGTGGGGTGTGGGTGGGGGTGTGGGGTGTGGGGTGTGGGTG
TGTGTGTGGGGGGTGTGGTGTGGGGGTGTGGTGTGGGGTGTGGTGTGGGG
TGTGGTGTGGGGGTGTGGTGTGGGTGGGGGTGTGGTGTGGGGGGTGTGGT
GGGTGTGGGTGTGGGTGGGGTGTGGTGTGGGTGTGGGTGTGGGGGGGGTG
TGGGGGGGTGTGGGTGGGGGTGGGGGTGGGTGTGTGGGGGTGGGTGTGTG
GGGTGGGGGTGTGGTGTGGGGGGGTGTGTGTGTGGGGGTGTGGTGTGTGG
GTGTGGGGTGGGGTGTGGTGTGGGGGTGTGGTGGGGGTGTGGTGGGGGTG
TGGGGTGTGGGGGTGTGGTGTGTGGTGGGGGTGTGTGGGGGGGTGTGGTG
GGGGTGTGGGGTGTGGTGTGGGGTGGGGTGTGGGGTGGGGGTTGGTGGGT
GTGGGTGTGTGGGTGGGGGGTGTGGGTGGGGGGTGTGGTGTGGTGTGTGG
GGGTGTGGTGTGGGGTGTGTGGTGTGGGGGTGTGGTGGTGTGGGTGGGTG
GTGTGTGGGGGGTGTGGTGGGGGTGTGGGTGTGGTGTGTGGGGGTGTGTG
TGGGGGTGTGGTGTGGTGGGTGTGTGTGTGTGGGGGGTGTGGTTGGGTGT
GT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500994
chr21:45500995 G
G
 GGTGTGTG
others(143): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
T
 2 a0001c0002t0002g0091
a0001c0055t0003g0152
a0001c0002t0002g0091
a0001c0055t0003g0152
 2 HG03834.hp1
NA19012.hp1
HG03834.hp1
NA19012.hp1
 intron_variant MODIFIER c.2684-3008_2684-300
others(154): Show 
c.2684-3008_2684-3007insGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTG
others(105): Show 
GGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGTTTTGGTGT
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2684-3000_2684-299
others(116): Show 
c.2684-3000_2684-2999insTAGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGTTTTGGTGTGTGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTG
others(5993): Show 
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTG
T
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2684-3000_2684-299
others(6004): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTG
others(279): Show 
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGT
 1 a0001c0004t0001g0090
a0001c0004t0001g0090
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.2684-3000_2684-299
others(290): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTG
others(281): Show 
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 4 a0001c0004t0001g0222
a0001c0005t0002g0224
a0001c0005t0002g0239
others(1): Show 
a0001c0004t0001g0222
a0001c0005t0002g0224
a0001c0005t0002g0239
a0005c0058t0001g0165
 4 HG01981.hp2
HG02071.hp2
HG02273.hp2
others(1): Show 
HG01981.hp2
HG02071.hp2
HG02273.hp2
NA19057.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(292): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1390): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGT
GTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 2 a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0052
a0001c0001t0001g0127
 2 NA19043.hp2
NA20300.hp2
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1401): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1386): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGG
TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1397): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1386): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGT
GTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0005t0002g0280
a0001c0005t0002g0280
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1397): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTG
TGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1378): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTACTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0274
a0001c0004t0001g0274
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1389): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTACTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1382): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0271
a0001c0004t0001g0271
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1393): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1379): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGCGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0053t0001g0244
a0001c0053t0001g0244
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1390): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGCGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1377): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0010c0014t0001g0275
a0010c0014t0001g0275
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1388): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1342): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0255
a0001c0004t0001g0255
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1353): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1379): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0013
a0001c0004t0001g0013
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1390): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1378): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0002c0012t0004g0049
a0002c0012t0004g0049
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1389): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1377): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0032
a0001c0004t0001g0032
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1388): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1378): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 15 a0001c0001t0001g0175
a0001c0004t0001g0174
a0001c0004t0001g0213
others(12): Show 
a0001c0001t0001g0175
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0267
a0001c0004t0001g0290
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0199
a0010c0014t0001g0265
a0031c0092t0011g0190
 15 HG00621.hp2
HG01496.hp1
HG02080.hp1
others(12): Show 
HG00621.hp2
HG01496.hp1
HG02080.hp1
HG02080.hp2
HG02622.hp2
HG02886.hp2
HG03041.hp2
HG03540.hp2
NA18959.hp2
NA18966.hp2
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19065.hp2
NA19091.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1389): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1338): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0022
a0001c0004t0001g0022
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1349): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1342): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGT
GTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1353): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1380): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0005c0036t0001g0292
a0005c0036t0001g0292
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1391): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1012): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGT
GTGGGGGTGTGGTTTGGTGT
 3 a0001c0004t0001g0018
a0001c0004t0001g0064
a0001c0004t0016g0051
a0001c0004t0001g0018
a0001c0004t0001g0064
a0001c0004t0016g0051
 3 HG02486.hp1
HG03225.hp2
NA19240.hp1
HG02486.hp1
HG03225.hp2
NA19240.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1023): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1377): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTGGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0002c0067t0001g0041
a0002c0067t0001g0041
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1388): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTG
GTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 G
G
 GGTGTGTT
others(1376): Show 
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
ATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
 1 a0001c0004t0001g0087
a0001c0004t0001g0087
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.2684-3010_2684-300
others(1387): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500995 GGT
GGT
 G
G
 8 a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
others(5): Show 
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0002g0252
a0012c0065t0002g0096
a0025c0050t0002g0108
 8 HG01070.hp2
HG01074.hp2
HG03041.hp1
others(5): Show 
HG01070.hp2
HG01074.hp2
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18906.hp1
 intron_variant MODIFIER c.2684-3009_2684-300
others(6): Show 
c.2684-3009_2684-3008delGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500995
chr21:45500997 T
T
 TGTGTGTT
others(758): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTG
 1 a0002c0021t0002g0001
a0002c0021t0002g0001
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(769): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500997
chr21:45500997 T
T
 TGTGTGTT
others(759): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTG
 1 a0002c0020t0001g0010
a0002c0020t0001g0010
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(770): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500997
chr21:45500997 T
T
 TGTGTGTT
others(754): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTG
 1 a0001c0006t0003g0177
a0001c0006t0003g0177
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(765): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500997
chr21:45500997 T
T
 TGTGTGTT
others(759): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTG
 10 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0180
others(7): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0009c0016t0001g0209
a0012c0088t0002g0006
 10 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(7): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01123.hp1
HG01257.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(770): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGG
GGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAG
TGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500997
chr21:45500999 T
T
 TGTTGGGT
others(373): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTGGTGTGTGGTGTTGGGGTGGTTGGGGGT
GTGGTGGTGTGGTGTGGGGGTGTGGTGGGTGTGGTGTGGGGTGTGGTGTG
GGGGTGTGGTGGGGGTGTGGGTGTGGGGTGTGGTGGGGGTGGGGTGTGGG
TGTGGGGTGTGGTGGGTGTGGGTGTGGGGGG
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(384): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGT
GGTGTTGGGGTGGTTGGGGGTGTGGTGGTGTGGTGTGGGGGTGTGGTGGG
TGTGGTGTGGGGTGTGGTGTGGGGGTGTGGTGGGGGTGTGGGTGTGGGGT
GTGGTGGGGGTGGGGTGTGGGTGTGGGGTGTGGTGGGTGTGGGTGTGGGG
GGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500999
chr21:45500999 T
T
 TGTTGGGT
others(1786): Show 
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGG
TATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGGGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTGGGGGG
TGTGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGT
GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTG
TGTGTGGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTTGGGTGTG
TAGTGTGGGGTGTGGTTTGGTGTGTGTGTGTGGGGTGTGTAGTGGGGGGG
TGTGGTTTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GGGTGTGTAGGTGGGGGGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GGTGTGGTTGGTGGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGGTG
TGTGTTGGGTGTGTAGTGGGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGGTGGGTTGGGGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGGTTGGG
TGTGTAGTGTGGGGGTGTGTTTGGTGTGTTGGGTGTGTGTGTGGGGGGTG
GGGTTTGGTGTGGGTTGGGTGTGGGGGTGGGGGGGGGGGTGGGGTGTGTG
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGGTGTAGGTGGGGGTGG
GGTTTGGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
 1 a0001c0069t0005g0038
a0001c0069t0005g0038
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1797): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGGGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGT
TTGGTGTGTGTGTGTGGGGGGTGTGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTAG
TGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTTTGGTGTGTGTGTG
TGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGTGTGGT
TTGGTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTGT
GTGGGGTGTGTAGTGGGGGGGTGTGGTTTGGTGTGTGTTGGGGTGTGTAG
TGTGGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGGGTGTGTAGGTGGGGGGTGGTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGGTGTGGTTGGTGGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTGGTGGTGTGTGTTGGGTGTGTAGTGGGGGGGTGTGG
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGGGTTGGGGTGTGTGGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGTTTGGTGTGT
TGGGTGTGTGTGTGGGGGGTGGGGTTTGGTGTGGGTTGGGTGTGGGGGTG
GGGGGGGGGGTGGGGTGTGTGGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTT
GGGTGGTGTAGGTGGGGGTGGGGTTTGGTGTGTGTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500999
chr21:45500999 TGTGTTGG
TGTGTTGG
 T
T
 3 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
 3 HG01891.hp1
HG02723.hp1
NA20129.hp1
HG01891.hp1
HG02723.hp1
NA20129.hp1
 intron_variant MODIFIER c.2684-3007_2684-300
others(11): Show 
c.2684-3007_2684-3001delTGGGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45500999
chr21:45501001 T
T
 TTGGGTGT
others(1012): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGG
GTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGTGTGGTTTGGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTATGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGGGGGTGTAGT
GGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTTGCGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGTGGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTTGTGTGGG
GGTGTGGTTTGTGTGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTT
TGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTGGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGGTGTTGGGTGTGTAGTGTGGGGG
TGGGGTTGGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTGTGGTGTGT
GTTGGGTGTGTGTGTGGGGGGTGGGTTGGGGGTGTTGTGTAGTGGGGGGG
GGTGGTGTGGTGTGTGTGTG
 1 a0001c0004t0001g0026
a0001c0004t0001g0026
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.2684-3010_2684-300
others(1023): Show 
c.2684-3010_2684-3009insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGT
GTGTAGTGTGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTGTGTGGGGGTGTAGTGGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGCGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTGTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTTGTGTGGGGGTGTGGTTTGTGTGTGTGTGTTGGGG
TGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGG
GGTGTGGTTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
GTGTTGGGTGTGTAGTGTGGGGGTGGGGTTGGTGTGTTGGGGTGTGTAGT
GTGGGGGGTGTGGTGTGGTGTGTGTTGGGTGTGTGTGTGGGGGGTGGGTT
GGGGGTGTTGTGTAGTGGGGGGGGGTGGTGTGGTGTGTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501001
chr21:45501003 T
T
 TTGGGTGT
others(755): Show 
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGGTGGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGGTGGGTTGGTGGTGTGTTGGGGTGTGTAGTGTGG
GGGGGGTGGTGTGGTGTGTTGGGTGTGTAGGTGGGGGGTGTGGTTGGTGT
GGTGTGGGGTGTGTGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGGTGGTTGGGTGTGTGGGTGTGTGTGTGGGGGTGTGGTTGGT
TGGTGTGGGTGGTGTAGTGTGGGGGTGTGGTTTGGGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGGTGTTGGGTGTGTTGTGGGGGTGTGGTT
TGGTGTGTGTGTGGGTGGTAGTGTGGGGTGTGGTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTAGGTGGGTGTGTT
GTGTGTGTGGGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGTGTGTTGGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGGGGGGTGTGGTTTG
GTGTGTGTGTGTG
 1 a0010c0014t0001g0279
a0010c0014t0001g0279
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(766): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGGTGGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGGGTTGGTGGTGTGTTG
GGGTGTGTAGTGTGGGGGGGGTGGTGTGGTGTGTTGGGTGTGTAGGTGGG
GGGTGTGGTTGGTGTGGTGTGGGGTGTGTGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGGTGGTTGGGTGTGTGGGTGTGTGTGT
GGGGGTGTGGTTGGTTGGTGTGGGTGGTGTAGTGTGGGGGTGTGGTTTGG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGTGTTGGGTGTGT
TGTGGGGGTGTGGTTTGGTGTGTGTGTGGGTGGTAGTGTGGGGTGTGGTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTAGGTGGGTGTGTTGTGTGTGTGGGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGT
GGGGGGTGTGGTTTGGTGTGTGTGTGTGTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501003
chr21:45501007 G
G
 GTGTGTAG
others(459): Show 
GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGT
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2684-3000_2684-299
others(470): Show 
c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501007
chr21:45501011 G
G
 T
T
 1 a0001c0069t0005g0038
a0001c0069t0005g0038
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2684-3000G>T
c.2684-3000G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501011
chr21:45501012 G
G
 GAGTGTGG
others(29): Show 
GAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
 6 a0001c0041t0001g0155
a0011c0040t0001g0046
a0011c0040t0001g0076
others(3): Show 
a0001c0041t0001g0155
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
 6 HG02145.hp1
HG02258.hp2
HG02280.hp1
others(3): Show 
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02717.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2972_2684-297
others(40): Show 
c.2684-2972_2684-2971insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501012
chr21:45501012 G
G
 GTTTGGTG
others(1108): Show 
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGT
 1 a0024c0066t0010g0066
a0024c0066t0010g0066
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2684-2999_2684-299
others(1119): Show 
c.2684-2999_2684-2998insTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501012
chr21:45501012 G
G
 GTTTGGTG
others(1506): Show 
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTG
TTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTG
TGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTG
TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTTGGGTGTGT
 1 a0022c0068t0010g0004
a0022c0068t0010g0004
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2684-2999_2684-299
others(1517): Show 
c.2684-2999_2684-2998insTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501012
chr21:45501012 G
G
 GTTTGGTG
others(632): Show 
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
 1 a0002c0103t0001g0136
a0002c0103t0001g0136
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2684-2999_2684-299
others(643): Show 
c.2684-2999_2684-2998insTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501012
chr21:45501012 G
G
 GTTTGGTG
others(1074): Show 
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAG
TGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT
TTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTTTGTGTGTTGGGTGT
GTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTATTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGT
GTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTG
TGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
 1 a0001c0004t0001g0214
a0001c0004t0001g0214
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.2684-2999_2684-299
others(1085): Show 
c.2684-2999_2684-2998insTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTTTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTATTGTGGGGGTGT
GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501012
chr21:45501012 G
G
 GTTTGGTG
others(1128): Show 
GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG
GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTG
TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGGTGG
GTGGGTGTGGTGTGGGGGGTGGTGGTGTGGTGTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTGTTGGGGTGTGGGTGTGGGGGTGTGGTTGGTG
TGTGTTGGGTGTGTGTGTGTGGGGGTGTGGTGTGTGGGTGTGTGGGTGTG
TGTGTGGGGGTGTGGTGTGTGTGTGTGTGGGTGTGTGTGTGTGGGGGTGT
GTGGGGGTGTGGTGTGGGGGGTGTGGGTGTGGGTGGTGTGTGGGGGTGTG
GTGTGGGGTGTGTTGGGTGTGTGTGGTGGGTGTGTGGGGTGTGGGTGGTG
TGTGTGGGGGTGTGGTGGGTGTGTGTGGGGTGTGGTGTGGGGGGTGTGGG
TGTGTGTGTGGGGGTGTGGTGGTGTGTGGGGGTGTGGTGTGGGGGGTGTG
GGTGTGTTGTGTGGGTGGGTGGTGTGGTGTGTGTGTGGTTGGGTGTGTGT
GTGGGGGTGTGGTTGTGTGTGTGTGGGGTGTGTAGTGTGGGGGTGTGGTG
GTGTGGGTGGGTGTGGTGGGGGGTGTGGGGGTGTGTGTGGGTGTGTGTGG
GGTGTGTGTGGGGGTGTGGTTGGTGTGTGGTGGGTGTGTAGTGTGGGGGG
TGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTG
TGTGGGTGTGTAGTGTGGGGGTGTGGTTGGGGTGGGGTGTGGGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTGTGTGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGT
AGTGTGGGGGTGTGGTGGGTGTGTGTGTGGGTGTGT
 1 a0001c0003t0001g0048
a0001c0003t0001g0048
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2684-2999_2684-299
others(1139): Show 
c.2684-2999_2684-2998insTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTTGGGTGTGTGTGTGGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGGTGGGTGGGTGTGGTGTGGGGGGTGGTGGTG
TGGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGGGGTG
TGGGTGTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTGTGTGTGGGGGTG
TGGTGTGTGGGTGTGTGGGTGTGTGTGTGGGGGTGTGGTGTGTGTGTGTG
TGGGTGTGTGTGTGTGGGGGTGTGTGGGGGTGTGGTGTGGGGGGTGTGGG
TGTGGGTGGTGTGTGGGGGTGTGGTGTGGGGTGTGTTGGGTGTGTGTGGT
GGGTGTGTGGGGTGTGGGTGGTGTGTGTGGGGGTGTGGTGGGTGTGTGTG
GGGTGTGGTGTGGGGGGTGTGGGTGTGTGTGTGGGGGTGTGGTGGTGTGT
GGGGGTGTGGTGTGGGGGGTGTGGGTGTGTTGTGTGGGTGGGTGGTGTGG
TGTGTGTGTGGTTGGGTGTGTGTGTGGGGGTGTGGTTGTGTGTGTGTGGG
GTGTGTAGTGTGGGGGTGTGGTGGTGTGGGTGGGTGTGGTGGGGGGTGTG
GGGGTGTGTGTGGGTGTGTGTGGGGTGTGTGTGGGGGTGTGGTTGGTGTG
TGGTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTGGGTGTGTAGTGTGGGGGTGTGGT
TGGGGTGGGGTGTGGGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGGTGTGTGTG
TGGGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501012
chr21:45501012 G
G
 T
T
 154 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(151): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0266
a0001c0002t0002g0092
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 154 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(151): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2999G>T
c.2684-2999G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501012
chr21:45501027 G
G
 T
T
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.2684-2984G>T
c.2684-2984G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501027
chr21:45501029 T
T
 G
G
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2684-2982T>G
c.2684-2982T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501029
chr21:45501032 G
G
 A
A
 3 a0001c0002t0002g0091
a0001c0002t0003g0143
a0001c0055t0003g0152
a0001c0002t0002g0091
a0001c0002t0003g0143
a0001c0055t0003g0152
 3 HG03834.hp1
NA18953.hp2
NA19012.hp1
HG03834.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.2684-2979G>A
c.2684-2979G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501032
chr21:45501033 T
T
 TGTGTGTT
others(774): Show 
TGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGGTTGGTGTGTTGGGTGTG
TAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGGGTGTGTAGTGGGGGTGT
GGTTTGGTGTGTGTGTGGTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTG
TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGTGTG
TGGTGTGGGGGTGTGGTTTGGTGTGTTGGGGTGTGTAGTGTGGGGGTGTG
GGTTTGGTGTGTGTGTGGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTG
TGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTGGTGTGTGTGGTGGGTG
TGTAGTGTGGGGGGTGTGGTGGTGGGGTGTGTTGGGTGTGTGTGTGGGGG
GTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGT
GTTGGGTGTGTAGTGGGGTGTGGTTGGTGGTGTGTGGTGTTGGGTGGGTA
GTGGGGGGTGGGGTTTGGTGTGTGTGTGTGGGTGTGTGGTGTGGGGGTGT
GTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGTGGTGTGT
GTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGGGTGTGTAGTGT
GGGGGTGTGGTTGGGTGTGTGTGTGGGGGTGTGTAGTGTGGGGGTGGTGG
TTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTG
TTGGGTGTGTAGTGGTGGGGGTGTGGTTTGGG
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2684-2972_2684-297
others(785): Show 
c.2684-2972_2684-2971insTGGGTGTGTAGTGTGGGGGGTGTGGG
TTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
GTGTGTAGTGGGGGTGTGGTTTGGTGTGTGTGTGGTGGGTGTGTAGTGTG
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGGTGTGTGGTGTGGGGGTGTGGTTTGGTGTGTTGGGGTG
TGTAGTGTGGGGGTGTGGGTTTGGTGTGTGTGTGGGGTGTGTAGTGTGGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
GGTGTGTGTGGTGGGTGTGTAGTGTGGGGGGTGTGGTGGTGGGGTGTGTT
GGGTGTGTGTGTGGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGGGTGTGGTTGGTGGTGT
GTGGTGTTGGGTGGGTAGTGGGGGGTGGGGTTTGGTGTGTGTGTGTGGGT
GTGTGGTGTGGGGGTGTGTGGTGTGGTGTGTGTTGGGTGTGTAGTGTGGG
GGTGTGGTGTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGGGTGTGTAGTGTGGGGGTGTGGTTGGGTGTGTGTGTGGGGGTGTG
TAGTGTGGGGGTGGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGGTGGGGGTGTGGTTTGGGG
TGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501033
chr21:45501043 T
T
 G
G
 1 a0001c0004t0001g0026
a0001c0004t0001g0026
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.2684-2968T>G
c.2684-2968T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501043
chr21:45501044 T
T
 G
G
 1 a0001c0003t0001g0261
a0001c0003t0001g0261
 1 HG01993.hp2
HG01993.hp2
 intron_variant MODIFIER c.2684-2967T>G
c.2684-2967T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501044
chr21:45501053 A
A
 G
G
 3 a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
 3 HG01167.hp2
HG02647.hp1
NA18522.hp2
HG01167.hp2
HG02647.hp1
NA18522.hp2
 intron_variant MODIFIER c.2684-2958A>G
c.2684-2958A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501053
chr21:45501056 G
G
 T
T
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-2955G>T
c.2684-2955G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501056
chr21:45501057 T
T
 G
G
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-2954T>G
c.2684-2954T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501057
chr21:45501058 G
G
 GGGGGTGT
others(911): Show 
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTGTGGTGGGGGTGTGGTGGT
GGGTGTGTGTTGGGGTGTGGTGTGGTGGGGGTGTGGTGTGGTGTGTGTTG
GGTGTGGGTTGTGGGGTGTGGTTGGTGGTGGGTGTGGTGGGTGTGTTGGG
TGTGTGGGGGGTGTGGTTGGTGTGTGGTTGGGTGTGTAGTGTGGGGGTGT
GGTTGGTGTGTGTTGGGTGTGTAGGGTGGGGGTGTGGTTGGTGTGTGGGT
GTGTGGTGTGGGGGGGGGTGTTGGGTGTGTGTGTGTGGGTGTGTAGTGTG
GGGGGTGGTTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGGGGTGTGTGGGGGTGTGG
GGGGGTGGTTGGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGGTGTAGTGTGGGGGTGTGGTTTGGGGTGGGTGTGTTGGGTGTGG
TGTGGGGGGTGTGGTTTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGGTGT
GGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTG
TGGTGGGTGGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGG
GTGTGGTGGGTGTGTTGTGTGGGGGTGTGGTTGGGTGTGTGTTGGGTGTG
TAGTGTGGGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
GTGTTGGGGTGTGTAGTGT
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.2684-2924_2684-292
others(922): Show 
c.2684-2924_2684-2923insTGTGGTGGGGGTGTGGTGGTGGGTGT
GTGTTGGGGTGTGGTGTGGTGGGGGTGTGGTGTGGTGTGTGTTGGGTGTG
GGTTGTGGGGTGTGGTTGGTGGTGGGTGTGGTGGGTGTGTTGGGTGTGTG
GGGGGTGTGGTTGGTGTGTGGTTGGGTGTGTAGTGTGGGGGTGTGGTTGG
TGTGTGTTGGGTGTGTAGGGTGGGGGTGTGGTTGGTGTGTGGGTGTGTGG
TGTGGGGGGGGGTGTTGGGTGTGTGTGTGTGGGTGTGTAGTGTGGGGGGT
GGTTGGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGGGGTGTGTGGGGGTGTGGGGGGGT
GGTTGGTGTGTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
GTGTAGTGTGGGGGTGTGGTTTGGGGTGGGTGTGTTGGGTGTGGTGTGGG
GGGTGTGGTTTGGTGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTTTT
GTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGTGTGTGGTGG
GTGGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGGTGTGG
TGGGTGTGTTGTGTGGGGGTGTGGTTGGGTGTGTGTTGGGTGTGTAGTGT
GGGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG
GGGTGTGTAGTGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501058
chr21:45501070 T
T
 TGGTGTGT
others(559): Show 
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGT
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGTGTGTGTGGGTGTGTAG
TGTGGGGGTGTGTGTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGG
TGTTTGGTGTGTGTGTGTTGGGTGTGGTGTGGGTGGGGGTGTGGTTTGGT
GTGTGTGTGTTGGGGTGTGTGTGGGGGGTGTGGTTTGGGTGTGTGGTGGG
GTGTGGGTGTGTGGGGGTGTGGTTGGTGTGTGGTGTGTTGGGGTGTGTAG
TGTGGGGGTGTGGTTTG
 1 a0001c0002t0002g0092
a0001c0002t0002g0092
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.2684-2924_2684-292
others(570): Show 
c.2684-2924_2684-2923insTAGTGTGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTGGTGTGTGTGGGT
GTGTAGTGTGGGGGTGTGTGTGGTGTGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGGTGTTTGGTGTGTGTGTGTTGGGTGTGGTGTGGGTGGGGGTGTGG
TTTGGTGTGTGTGTGTTGGGGTGTGTGTGGGGGGTGTGGTTTGGGTGTGT
GGTGGGGTGTGGGTGTGTGGGGGTGTGGTTGGTGTGTGGTGTGTTGGGGT
GTGTAGTGTGGGGGTGTGGTTTGGGTGTGTGTTGGGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501070
chr21:45501078 G
G
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2684-2933G>T
c.2684-2933G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501078
chr21:45501080 T
T
 G
G
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2684-2931T>G
c.2684-2931T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501080
chr21:45501082 G
G
 T
T
 21 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(18): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 21 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(18): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-2929G>T
c.2684-2929G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501082
chr21:45501083 G
G
 T
T
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.2684-2928G>T
c.2684-2928G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501083
chr21:45501088 G
G
 T
T
 169 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(166): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 169 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2923G>T
c.2684-2923G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501088
chr21:45501091 T
T
 TGTGGGGG
others(629): Show 
TGTGGGGGTGTGGTTGGTGTGTGTTGGGGTGTGTGTGGGGGGTGTGGTTT
GGTGTGTGTTGGGTGTGTGTGGGGGGTGTGGTTTGGTGTGTGTTGGGTGT
GTGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTGGTGTGGTTGGGTGTGTGTGTGGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGGTGTGTGTGGGGGTGTGGTTTGGGTGTGTGTGGGTGTGTGTGTGGG
GGTGTGGTTTTGTGTGTGTGTGTTGGGGTGTGGGGGGGGGGGGTGGGGGG
TGTGGGTGTGGTGGGGGGGGGGGGGGGGGGGTGGGTGGGGGGGGGTGGGT
GTGTGGGGGGGGGGTGTGGTTGGTGGGGGGGGGGTGTGTGGGGGGGGTGG
GGGGGGGGGTGGTTGGGTGTGTTGGGGGTGTGTGTGGGGGGTGTGGTTGG
GTGTGTGGGGGTGTAGTGTGGGGGTGTGGTTGGGTGTGTGGGGTGTAGGG
TGGGGGTGTGGGGTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG
GGTGGTGTGTGGTGGGTGTGGTGTGGGGGGTGGGTGGTGTGTGTGTGTGG
GGGGGTGTGGGGGTGTGGTGGTGTGGGGGTGTGTAGG
 1 a0001c0069t0005g0038
a0001c0069t0005g0038
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2684-2906_2684-290
others(640): Show 
c.2684-2906_2684-2905insGGTGTGTGTTGGGGTGTGTGTGGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTGTGGGGGGTGTGGTTTGGTGTGT
GTTGGGTGTGTGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTG
GGGGTGTGGTTGGTGTGGTTGGGTGTGTGTGTGGGGGGTGTGGTTTGGTG
TGTGTGTGTTGGGGTGTGTGTGGGGGTGTGGTTTGGGTGTGTGTGGGTGT
GTGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGGTGTGGGGGGGGGG
GGTGGGGGGTGTGGGTGTGGTGGGGGGGGGGGGGGGGGGGTGGGTGGGGG
GGGGTGGGTGTGTGGGGGGGGGGTGTGGTTGGTGGGGGGGGGGTGTGTGG
GGGGGGTGGGGGGGGGGGTGGTTGGGTGTGTTGGGGGTGTGTGTGGGGGG
TGTGGTTGGGTGTGTGGGGGTGTAGTGTGGGGGTGTGGTTGGGTGTGTGG
GGTGTAGGGTGGGGGTGTGGGGTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGGTGGTGTGTGGTGGGTGTGGTGTGGGGGGTGGGTGGTGTG
TGTGTGTGGGGGGGTGTGGGGGTGTGGTGGTGTGGGGGTGTGTAGGGTGG
GGGTGTGGTT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501091
chr21:45501093 T
T
 C
C
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2684-2918T>C
c.2684-2918T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501093
chr21:45501102 G
G
 GGTTTGGT
others(1173): Show 
GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGT
GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGT
GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG
TGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGGTTGGGT
GTGGTGTGTTGGTGTGTTGTGTAGTGTGGGGTGGTTGTGGTTTGGTGTGT
GTAGGTGTGGGTGTGGTTTGTGTGTGTGTGTAGTGGGGTGTGAGTGTGGT
TTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT
 1 a0028c0097t0001g0036
a0028c0097t0001g0036
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-2896_2684-289
others(1184): Show 
c.2684-2896_2684-2895insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG
TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG
GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA
GTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG
TTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG
GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT
GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTGTAGTGTGG
GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT
TTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGT
TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGT
GGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTG
GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTG
TAGGTTGGGTGTGGTGTGTTGGTGTGTTGTGTAGTGTGGGGTGGTTGTGG
TTTGGTGTGTGTAGGTGTGGGTGTGGTTTGTGTGTGTGTGTAGTGGGGTG
TGAGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTTTGGTGT
GTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501102
chr21:45501107 G
G
 GGT
GGT
 60 a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
others(57): Show 
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0071
a0001c0004t0001g0214
a0001c0004t0001g0225
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0089t0001g0119
a0002c0012t0004g0058
a0002c0083t0001g0237
a0004c0091t0001g0056
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0030c0056t0001g0044
a0032c0052t0002g0077
 60 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(57): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01243.hp1
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19010.hp1
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2886_2684-288
others(6): Show 
c.2684-2886_2684-2885dupTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501107
chr21:45501107 G
G
 GGTGT
GGTGT
 4 a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0062t0002g0097
others(1): Show 
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0062t0002g0097
a0009c0016t0002g0252
 4 HG02698.hp1
HG02970.hp2
HG03195.hp1
others(1): Show 
HG02698.hp1
HG02970.hp2
HG03195.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-2888_2684-288
others(8): Show 
c.2684-2888_2684-2885dupTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501107
chr21:45501107 G
G
 GGTGTGT
GGTGTGT
 20 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(17): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 20 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(17): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
NA18522.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-2890_2684-288
others(10): Show 
c.2684-2890_2684-2885dupTGTGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501107
chr21:45501107 G
G
 GGTGTGTG
others(39): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2684-2892_2684-289
others(50): Show 
c.2684-2892_2684-2891insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTGTGTGTGTGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501107
chr21:45501107 G
G
 GGTGTGTG
others(71): Show 
GGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTT
GGGTGTGTAGTGTGGGGGTGTGGTTTGGT
 1 a0006c0072t0002g0082
a0006c0072t0002g0082
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.2684-2892_2684-289
others(82): Show 
c.2684-2892_2684-2891insTGGGTGTGTAGTGTGGGGGTGTGGTT
TGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT
GT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501107
chr21:45501132 T
T
 A
A
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2684-2879T>A
c.2684-2879T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501132
chr21:45501133 A
A
 C
C
 1 a0001c0003t0003g0264
a0001c0003t0003g0264
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.2684-2878A>C
c.2684-2878A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501133
chr21:45501204 T
T
 A
A
 126 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(123): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 126 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(123): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2807T>A
c.2684-2807T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501204
chr21:45501218 A
A
 G
G
 2 a0001c0003t0001g0145
a0001c0082t0008g0053
a0001c0003t0001g0145
a0001c0082t0008g0053
 2 HG02818.hp1
HG03579.hp2
HG02818.hp1
HG03579.hp2
 intron_variant MODIFIER c.2684-2793A>G
c.2684-2793A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501218
chr21:45501224 A
A
 G
G
 168 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(165): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 168 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(165): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2787A>G
c.2684-2787A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501224
chr21:45501251 A
A
 G
G
 1 a0001c0011t0001g0016
a0001c0011t0001g0016
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.2684-2760A>G
c.2684-2760A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501251
chr21:45501321 C
C
 T
T
 1 a0020c0094t0011g0075
a0020c0094t0011g0075
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2684-2690C>T
c.2684-2690C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501321
chr21:45501337 T
T
 G
G
 169 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(166): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 169 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(166): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp1
NA18990.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2674T>G
c.2684-2674T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501337
chr21:45501352 G
G
 A
A
 2 a0001c0002t0002g0105
a0001c0002t0002g0188
a0001c0002t0002g0105
a0001c0002t0002g0188
 2 NA18998.hp1
NA19005.hp1
NA18998.hp1
NA19005.hp1
 intron_variant MODIFIER c.2684-2659G>A
c.2684-2659G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501352
chr21:45501360 C
C
 T
T
 25 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(22): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
 25 HG00544.hp1
HG00733.hp2
HG02145.hp1
others(22): Show 
HG00544.hp1
HG00733.hp2
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03209.hp2
HG03471.hp2
HG04228.hp1
NA18906.hp2
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2651C>T
c.2684-2651C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501360
chr21:45501378 G
G
 A
A
 1 a0003c0009t0001g0167
a0003c0009t0001g0167
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-2633G>A
c.2684-2633G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501378
chr21:45501457 AC
AC
 A
A
 17 a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
others(14): Show 
a0001c0041t0001g0155
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0018c0095t0001g0146
a0019c0096t0015g0045
 17 HG00544.hp1
HG02145.hp1
HG02258.hp2
others(14): Show 
HG00544.hp1
HG02145.hp1
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02683.hp1
HG02717.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2550delC
c.2684-2550delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501457
chr21:45501490 G
G
 A
A
 17 a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
others(14): Show 
a0001c0001t0001g0025
a0001c0001t0001g0149
a0001c0001t0001g0150
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0068
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0019c0096t0015g0045
a0026c0044t0001g0037
 17 HG00544.hp1
HG00733.hp2
HG01261.hp2
others(14): Show 
HG00544.hp1
HG00733.hp2
HG01261.hp2
HG02280.hp1
HG02683.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG04228.hp1
NA18964.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-2521G>A
c.2684-2521G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501490
chr21:45501572 C
C
 T
T
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2684-2439C>T
c.2684-2439C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501572
chr21:45501589 G
G
 A
A
 1 a0001c0004t0001g0071
a0001c0004t0001g0071
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.2684-2422G>A
c.2684-2422G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501589
chr21:45501652 C
C
 A
A
 16 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(13): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0268
a0001c0017t0003g0205
a0001c0098t0001g0007
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0012c0065t0002g0096
a0012c0088t0002g0006
 16 HG00280.hp1
HG00738.hp2
HG01070.hp2
others(13): Show 
HG00280.hp1
HG00738.hp2
HG01070.hp2
HG01123.hp1
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01496.hp2
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02451.hp2
HG03239.hp2
HG03942.hp1
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-2359C>A
c.2684-2359C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(78): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
 1 a0001c0069t0005g0038
a0001c0069t0005g0038
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2684-2322_2684-232
others(89): Show 
c.2684-2322_2684-2321insAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(36): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0002c0021t0002g0001
a0002c0021t0002g0001
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2684-2253_2684-221
others(47): Show 
c.2684-2253_2684-2211dupCCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(79): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
 1 a0001c0013t0002g0207
a0001c0013t0002g0207
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.2684-2280_2684-227
others(90): Show 
c.2684-2280_2684-2279insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(36): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGAG
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2684-2323_2684-232
others(47): Show 
c.2684-2323_2684-2322insTCAGGAGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(79): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGAGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0001c0019t0003g0170
a0001c0019t0003g0170
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2684-2323_2684-232
others(90): Show 
c.2684-2323_2684-2322insTCAGGAGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(122): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGAGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0001c0079t0001g0042
a0001c0079t0001g0042
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.2684-2323_2684-232
others(133): Show 
c.2684-2323_2684-2322insTCAGGAGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(36): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
 3 a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 3 HG01496.hp1
HG02809.hp1
HG02886.hp1
HG01496.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2684-2323_2684-232
others(47): Show 
c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCACA
others(165): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC
CTCTACAGAAGGACCCCCAGGGG
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2684-2323_2684-232
others(176): Show 
c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 C
C
 CCTCCGCA
others(36): Show 
CCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
 2 a0009c0016t0002g0252
a0025c0050t0002g0108
a0009c0016t0002g0252
a0025c0050t0002g0108
 2 HG03654.hp1
HG04184.hp1
HG03654.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-2355_2684-235
others(47): Show 
c.2684-2355_2684-2354insGCAGCCGGTCACCTCCCTCTGCAGAA
GGACCCTCAGGGGCTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501652 CCTCCACA
others(36): Show 
CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 C
C
 1 a0001c0033t0002g0100
a0001c0033t0002g0100
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2684-2253_2684-221
others(47): Show 
c.2684-2253_2684-2211delCCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501652
chr21:45501658 C
C
 CAGCCGGT
others(79): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2684-2323_2684-232
others(90): Show 
c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501658
chr21:45501672 C
C
 CCTCTGCA
others(36): Show 
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT
 1 a0001c0004t0001g0018
a0001c0004t0001g0018
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2684-2297_2684-229
others(47): Show 
c.2684-2297_2684-2296insTCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501672
chr21:45501672 CCTCTGCA
others(122): Show 
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCT
 C
C
 2 a0001c0001t0001g0150
a0001c0089t0001g0119
a0001c0001t0001g0150
a0001c0089t0001g0119
 2 HG01261.hp2
HG03017.hp1
HG01261.hp2
HG03017.hp1
 intron_variant MODIFIER c.2684-2270_2684-214
others(4): Show 
c.2684-2270_2684-2142del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501672
chr21:45501677 G
G
 A
A
 2 a0001c0041t0001g0155
a0018c0095t0001g0146
a0001c0041t0001g0155
a0018c0095t0001g0146
 2 HG02145.hp1
NA21309.hp1
HG02145.hp1
NA21309.hp1
 intron_variant MODIFIER c.2684-2334G>A
c.2684-2334G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501677
chr21:45501677 G
G
 GCAGAAGG
others(36): Show 
GCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTA
 2 a0002c0067t0001g0041
a0004c0099t0003g0030
a0002c0067t0001g0041
a0004c0099t0003g0030
 2 HG02280.hp2
HG02922.hp1
HG02280.hp2
HG02922.hp1
 intron_variant MODIFIER c.2684-2323_2684-232
others(47): Show 
c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTACAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501677
chr21:45501686 C
C
 CCCCCAGG
others(466): Show 
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTA
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGATCCCCA
GGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTC
CACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCC
GGTCACCTCCCTCTACAGAAGGAT
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-2292_2684-229
others(477): Show 
c.2684-2292_2684-2291insACAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAG
AAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGATCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCC
CTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501686
chr21:45501689 C
C
 CCAGGGGC
others(165): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0002t0002g0023
a0001c0002t0002g0023
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.2684-2228_2684-222
others(176): Show 
c.2684-2228_2684-2227insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501689
chr21:45501689 C
C
 CCAGGGGC
others(122): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2684-2237_2684-223
others(133): Show 
c.2684-2237_2684-2236insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501689
chr21:45501689 C
C
 CCAGGGGC
others(122): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0003t0001g0287
a0001c0003t0001g0287
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.2684-2271_2684-227
others(133): Show 
c.2684-2271_2684-2270insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501689
chr21:45501689 C
C
 CCAGGGGC
others(36): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 5 a0001c0005t0007g0262
a0001c0013t0002g0122
a0008c0018t0005g0132
others(2): Show 
a0001c0005t0007g0262
a0001c0013t0002g0122
a0008c0018t0005g0132
a0008c0101t0005g0027
a0029c0071t0002g0134
 5 HG01192.hp2
HG03453.hp1
HG03579.hp1
others(2): Show 
HG01192.hp2
HG03453.hp1
HG03579.hp1
HG03927.hp2
NA18954.hp2
 intron_variant MODIFIER c.2684-2280_2684-227
others(47): Show 
c.2684-2280_2684-2279insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501689
chr21:45501689 C
C
 T
T
 13 a0001c0001t0001g0192
a0001c0019t0003g0065
a0001c0022t0001g0008
others(10): Show 
a0001c0001t0001g0192
a0001c0019t0003g0065
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0079t0001g0042
a0001c0080t0004g0057
a0002c0012t0004g0040
a0002c0012t0004g0049
a0004c0100t0001g0039
a0019c0096t0015g0045
 13 HG01891.hp1
HG02280.hp1
HG02559.hp2
others(10): Show 
HG01891.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02886.hp2
HG02970.hp1
HG03098.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
NA18906.hp2
 intron_variant MODIFIER c.2684-2322C>T
c.2684-2322C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501689
chr21:45501694 G
G
 A
A
 1 a0001c0019t0003g0065
a0001c0019t0003g0065
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2684-2317G>A
c.2684-2317G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501694
chr21:45501698 C
C
 T
T
 5 a0001c0063t0001g0144
a0009c0016t0002g0252
a0021c0086t0002g0176
others(2): Show 
a0001c0063t0001g0144
a0009c0016t0002g0252
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 5 HG02809.hp1
HG02886.hp1
HG04115.hp1
others(2): Show 
HG02809.hp1
HG02886.hp1
HG04115.hp1
HG04184.hp1
HG06807.hp1
 intron_variant MODIFIER c.2684-2313C>T
c.2684-2313C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501698
chr21:45501701 C
C
 A
A
 5 a0001c0063t0001g0144
a0009c0016t0002g0252
a0021c0086t0002g0176
others(2): Show 
a0001c0063t0001g0144
a0009c0016t0002g0252
a0021c0086t0002g0176
a0036c0048t0004g0184
a0037c0049t0004g0183
 5 HG02809.hp1
HG02886.hp1
HG04115.hp1
others(2): Show 
HG02809.hp1
HG02886.hp1
HG04115.hp1
HG04184.hp1
HG06807.hp1
 intron_variant MODIFIER c.2684-2310C>A
c.2684-2310C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501701
chr21:45501701 C
C
 CAGCCGGT
others(466): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTTCAA
 1 a0007c0034t0001g0282
a0007c0034t0001g0282
 1 NA19060.hp2
NA19060.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(477): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
CAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGC
TCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAG
CCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCA
CCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501701 C
C
 CAGCCGGT
others(251): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAA
 1 a0035c0078t0001g0115
a0035c0078t0001g0115
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.2684-2237_2684-223
others(262): Show 
c.2684-2237_2684-2236insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501701 C
C
 CAGCCGGT
others(208): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAA
 1 a0007c0034t0001g0141
a0007c0034t0001g0141
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.2684-2237_2684-223
others(219): Show 
c.2684-2237_2684-2236insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501701 C
C
 CAGCCGGT
others(36): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 5 a0001c0002t0002g0236
a0001c0003t0001g0110
a0001c0004t0001g0022
others(2): Show 
a0001c0002t0002g0236
a0001c0003t0001g0110
a0001c0004t0001g0022
a0001c0004t0001g0032
a0003c0010t0006g0014
 5 HG01258.hp2
HG04184.hp2
NA18999.hp2
others(2): Show 
HG01258.hp2
HG04184.hp2
NA18999.hp2
NA19010.hp2
NA19060.hp1
 intron_variant MODIFIER c.2684-2271_2684-227
others(47): Show 
c.2684-2271_2684-2270insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501701 C
C
 CAGCCGGT
others(122): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0004t0001g0290
a0001c0004t0001g0290
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.2684-2280_2684-227
others(133): Show 
c.2684-2280_2684-2279insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501701 C
C
 CAGCCGGT
others(79): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0033c0077t0003g0098
a0033c0077t0003g0098
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2684-2280_2684-227
others(90): Show 
c.2684-2280_2684-2279insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501701 CAGCCGGT
others(165): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
TCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAA
 C
C
 18 a0001c0001t0001g0099
a0001c0001t0001g0121
a0001c0001t0001g0128
others(15): Show 
a0001c0001t0001g0099
a0001c0001t0001g0121
a0001c0001t0001g0128
a0001c0001t0001g0241
a0001c0002t0002g0047
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0030t0002g0285
a0001c0030t0002g0286
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0006c0028t0003g0059
 18 HG00544.hp1
HG01074.hp1
HG01081.hp2
others(15): Show 
HG00544.hp1
HG01074.hp1
HG01081.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG02155.hp1
HG02602.hp1
HG02647.hp2
HG02735.hp2
HG04228.hp1
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18995.hp1
NA18999.hp1
NA19007.hp2
NA19088.hp2
 intron_variant MODIFIER c.2684-2236_2684-206
others(4): Show 
c.2684-2236_2684-2065del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501701
chr21:45501715 C
C
 CCTCTGCA
others(1155): Show 
CCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG
GGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTTC
AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCTCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTT
CAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCC
GGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACC
TCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCT
GCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAG
GACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTC
AGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCT
CTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGA
AGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCC
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACA
GCCGGTCACCTCT
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.2684-2271_2684-227
others(1166): Show 
c.2684-2271_2684-2270insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGG
GCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTTCAA
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCTCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC
AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCT
GCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAG
GACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCC
AGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGC
CGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501715
chr21:45501715 C
C
 CCTCTGCA
others(79): Show 
CCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT
 2 a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0067
a0008c0018t0005g0130
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 intron_variant MODIFIER c.2684-2280_2684-227
others(90): Show 
c.2684-2280_2684-2279insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCTCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501715
chr21:45501715 C
C
 T
T
 2 a0001c0069t0005g0038
a0031c0092t0011g0190
a0001c0069t0005g0038
a0031c0092t0011g0190
 2 HG01496.hp1
HG02109.hp2
HG01496.hp1
HG02109.hp2
 intron_variant MODIFIER c.2684-2296C>T
c.2684-2296C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501715
chr21:45501715 CCTCTGCA
others(79): Show 
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT
 C
C
 4 a0001c0001t0001g0191
a0001c0002t0002g0074
a0001c0002t0002g0102
others(1): Show 
a0001c0001t0001g0191
a0001c0002t0002g0074
a0001c0002t0002g0102
a0001c0013t0002g0206
 4 HG00099.hp1
HG00323.hp1
HG01255.hp1
others(1): Show 
HG00099.hp1
HG00323.hp1
HG01255.hp1
HG02818.hp2
 intron_variant MODIFIER c.2684-2227_2684-214
others(90): Show 
c.2684-2227_2684-2142delCCACAGCCGGTCACCTCTCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501715
chr21:45501720 G
G
 A
A
 2 a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0040
a0002c0012t0004g0049
 2 HG02886.hp2
HG03486.hp1
HG02886.hp2
HG03486.hp1
 intron_variant MODIFIER c.2684-2291G>A
c.2684-2291G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501720
chr21:45501732 C
C
 CCAGGGGC
others(1111): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CCCTCTGCAGAAGGACCCT
 1 a0001c0005t0006g0173
a0001c0005t0006g0173
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.2684-2228_2684-222
others(1122): Show 
c.2684-2228_2684-2227insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTG
CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTC
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501732
chr21:45501732 C
C
 CCAGGGGC
others(122): Show 
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0004t0001g0267
a0001c0004t0001g0267
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.2684-2271_2684-227
others(133): Show 
c.2684-2271_2684-2270insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGG
GCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501732
chr21:45501732 C
C
 T
T
 9 a0001c0001t0001g0033
a0001c0013t0002g0207
a0001c0013t0014g0210
others(6): Show 
a0001c0001t0001g0033
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0079t0001g0042
a0019c0096t0015g0045
 9 HG00642.hp2
HG01978.hp2
HG02280.hp1
others(6): Show 
HG00642.hp2
HG01978.hp2
HG02280.hp1
HG02723.hp1
HG03098.hp2
HG03471.hp1
NA19005.hp2
NA19057.hp2
NA20129.hp1
 intron_variant MODIFIER c.2684-2279C>T
c.2684-2279C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501732
chr21:45501737 G
G
 A
A
 1 a0001c0019t0003g0139
a0001c0019t0003g0139
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.2684-2274G>A
c.2684-2274G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501737
chr21:45501741 C
C
 T
T
 75 a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0187
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0274
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0006t0003g0079
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0199
a0002c0103t0001g0136
a0003c0010t0002g0151
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0032c0052t0002g0077
 75 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(72): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03579.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18944.hp1
NA18949.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18983.hp2
NA18990.hp2
NA19007.hp1
NA19064.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2270C>T
c.2684-2270C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501741
chr21:45501743 A
A
 ACAGCCGG
others(37): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 1 a0007c0031t0002g0160
a0007c0031t0002g0160
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.2684-2237_2684-223
others(48): Show 
c.2684-2237_2684-2236insTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501743
chr21:45501744 C
C
 A
A
 75 a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0187
others(72): Show 
a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0274
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0006t0003g0079
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0011t0001g0016
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0054t0002g0201
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0012t0004g0199
a0002c0103t0001g0136
a0003c0010t0002g0151
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0022c0068t0010g0004
a0024c0066t0010g0066
a0032c0052t0002g0077
 75 HG00099.hp2
HG00140.hp2
HG00438.hp1
others(72): Show 
HG00099.hp2
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01361.hp2
HG01943.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03579.hp2
HG03688.hp2
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18944.hp1
NA18949.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp2
NA18983.hp2
NA18990.hp2
NA19007.hp1
NA19064.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2267C>A
c.2684-2267C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501744
chr21:45501744 C
C
 CAGCCGGT
others(338): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTC
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0013t0014g0210
a0001c0013t0014g0210
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(349): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCC
TCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAG
CCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCA
CCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCT
CTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGA
AGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCC
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501744
chr21:45501744 C
C
 CAGCCGGT
others(251): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAA
 1 a0007c0076t0002g0281
a0007c0076t0002g0281
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.2684-2211_2684-221
others(262): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAA
GGACCCCCAGGGGCTCCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501744
chr21:45501744 C
C
 CAGCCGGT
others(294): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC
AA
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(305): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCC
CAGGGGCTCCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501744
chr21:45501744 C
C
 CAGCCGGT
others(36): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 4 a0001c0011t0001g0009
a0001c0011t0001g0017
a0001c0011t0001g0050
others(1): Show 
a0001c0011t0001g0009
a0001c0011t0001g0017
a0001c0011t0001g0050
a0025c0050t0002g0108
 4 HG01167.hp2
HG02647.hp1
HG02965.hp2
others(1): Show 
HG01167.hp2
HG02647.hp1
HG02965.hp2
HG03654.hp1
 intron_variant MODIFIER c.2684-2228_2684-222
others(47): Show 
c.2684-2228_2684-2227insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501744
chr21:45501744 C
C
 CAGCCGGT
others(251): Show 
CAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAA
 1 a0004c0091t0001g0056
a0004c0091t0001g0056
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.2684-2254_2684-225
others(262): Show 
c.2684-2254_2684-2253insTCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501744
chr21:45501744 CAGCCGGT
others(122): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 C
C
 30 a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
others(27): Show 
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0125
a0001c0001t0001g0135
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0002g0278
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0003t0001g0289
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0008t0002g0272
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0061t0001g0257
a0001c0062t0002g0097
a0001c0064t0001g0061
a0007c0031t0002g0123
a0015c0029t0003g0226
a0015c0029t0003g0227
a0017c0043t0002g0015
 30 HG00280.hp2
HG00408.hp1
HG00408.hp2
others(27): Show 
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG01070.hp1
HG01243.hp2
HG01515.hp1
HG01517.hp1
HG01928.hp2
HG01978.hp1
HG02071.hp1
HG02083.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02683.hp2
HG02698.hp1
HG03654.hp2
HG03688.hp1
HG03710.hp1
NA18944.hp2
NA18945.hp2
NA18966.hp1
NA18990.hp1
NA18998.hp1
NA19005.hp1
NA19064.hp1
NA19065.hp1
NA19091.hp1
 intron_variant MODIFIER c.2684-2210_2684-208
others(4): Show 
c.2684-2210_2684-2082del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501744
chr21:45501755 C
C
 G
G
 3 a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
 3 HG01070.hp2
HG01123.hp1
HG03239.hp2
HG01070.hp2
HG01123.hp1
HG03239.hp2
 intron_variant MODIFIER c.2684-2256C>G
c.2684-2256C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501755
chr21:45501758 C
C
 T
T
 2 a0021c0086t0002g0176
a0030c0056t0001g0044
a0021c0086t0002g0176
a0030c0056t0001g0044
 2 HG03486.hp2
HG04115.hp1
HG03486.hp2
HG04115.hp1
 intron_variant MODIFIER c.2684-2253C>T
c.2684-2253C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501758
chr21:45501758 CCTCTGCA
others(36): Show 
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT
 C
C
 1 a0001c0002t0002g0235
a0001c0002t0002g0235
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2684-2210_2684-216
others(47): Show 
c.2684-2210_2684-2168delTCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501758
chr21:45501763 G
G
 A
A
 3 a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 3 HG02257.hp1
HG02809.hp1
HG02886.hp1
HG02257.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.2684-2248G>A
c.2684-2248G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501763
chr21:45501765 AGAAGGAC
others(296): Show 
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCC
GGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACC
TCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTC
TGCC
 A
A
 1 a0001c0063t0001g0144
a0001c0063t0001g0144
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2684-2210_2684-190
others(4): Show 
c.2684-2210_2684-1908del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501765
chr21:45501775 C
C
 CCAGGGGC
others(36): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 2 a0001c0001t0004g0223
a0001c0055t0003g0152
a0001c0001t0004g0223
a0001c0055t0003g0152
 2 HG03704.hp2
NA19012.hp1
HG03704.hp2
NA19012.hp1
 intron_variant MODIFIER c.2684-2211_2684-221
others(47): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501775
chr21:45501775 C
C
 CCAGGGGC
others(79): Show 
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0004t0001g0271
a0001c0004t0001g0271
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.2684-2228_2684-222
others(90): Show 
c.2684-2228_2684-2227insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CTCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501775
chr21:45501775 C
C
 T
T
 29 a0001c0001t0001g0142
a0001c0001t0001g0203
a0001c0002t0002g0088
others(26): Show 
a0001c0001t0001g0142
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0236
a0001c0003t0001g0110
a0001c0004t0001g0112
a0001c0007t0002g0194
a0001c0013t0002g0122
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0080t0004g0057
a0001c0090t0002g0089
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0015t0001g0189
a0003c0046t0001g0002
a0004c0100t0001g0039
a0005c0036t0001g0245
a0006c0072t0002g0082
a0007c0031t0002g0160
a0008c0018t0005g0132
a0008c0101t0005g0027
a0023c0085t0002g0106
a0026c0044t0001g0037
a0029c0071t0002g0134
 29 HG00323.hp2
HG00639.hp2
HG00642.hp1
others(26): Show 
HG00323.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp2
HG02055.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02683.hp1
HG02698.hp2
HG02922.hp2
HG02970.hp1
HG03098.hp1
HG03453.hp1
HG03540.hp1
HG03579.hp1
HG03834.hp2
HG03927.hp2
NA18612.hp1
NA18964.hp2
NA18999.hp2
NA20129.hp1
NA20905.hp2
 intron_variant MODIFIER c.2684-2236C>T
c.2684-2236C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501775
chr21:45501775 CCAGGGGC
others(209): Show 
CCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCC
CTCTGCAGAAGGACCCT
 C
C
 1 a0001c0001t0004g0129
a0001c0001t0004g0129
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.2684-2210_2684-199
others(4): Show 
c.2684-2210_2684-1995del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501775
chr21:45501780 G
G
 A
A
 5 a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
others(2): Show 
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
 5 HG02572.hp1
HG02622.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02622.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.2684-2231G>A
c.2684-2231G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501780
chr21:45501781 G
G
 GC
GC
 5 a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0015t0001g0189
others(2): Show 
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0015t0001g0189
a0003c0046t0001g0002
a0026c0044t0001g0037
 5 HG00733.hp2
HG02683.hp1
HG02922.hp2
others(2): Show 
HG00733.hp2
HG02683.hp1
HG02922.hp2
NA18964.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-2229dupC
c.2684-2229dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501781
chr21:45501782 CTCCACAG
others(78): Show 
CTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 C
C
 6 a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
others(3): Show 
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0090t0002g0089
 6 HG00323.hp2
HG00735.hp1
HG01255.hp2
others(3): Show 
HG00323.hp2
HG00735.hp1
HG01255.hp2
HG01515.hp2
HG01517.hp2
HG02698.hp2
 intron_variant MODIFIER c.2684-2228_2684-214
others(89): Show 
c.2684-2228_2684-2144delTCCACAGCCGGTCACCTCTCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501782
chr21:45501782 CTCCACAG
others(295): Show 
CTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAG
GGG
 C
C
 1 a0005c0036t0001g0245
a0005c0036t0001g0245
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.2684-2228_2684-192
others(4): Show 
c.2684-2228_2684-1927del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501782
chr21:45501784 C
C
 G
G
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2684-2227C>G
c.2684-2227C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501784
chr21:45501784 C
C
 T
T
 22 a0001c0001t0001g0126
a0001c0001t0001g0234
a0001c0001t0001g0273
others(19): Show 
a0001c0001t0001g0126
a0001c0001t0001g0234
a0001c0001t0001g0273
a0001c0002t0002g0023
a0001c0002t0002g0133
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0181
a0001c0003t0001g0221
a0001c0004t0001g0032
a0001c0005t0002g0232
a0001c0005t0003g0211
a0001c0005t0007g0263
a0001c0008t0002g0240
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0098t0001g0007
a0002c0083t0001g0237
a0003c0010t0006g0014
a0021c0086t0002g0176
a0030c0056t0001g0044
 22 HG00099.hp2
HG00140.hp1
HG00558.hp2
others(19): Show 
HG00099.hp2
HG00140.hp1
HG00558.hp2
HG00639.hp1
HG01496.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02451.hp2
HG02735.hp1
HG03486.hp2
HG03710.hp2
HG04115.hp1
HG04228.hp2
NA18747.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19060.hp1
 intron_variant MODIFIER c.2684-2227C>T
c.2684-2227C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501784
chr21:45501786 A
A
 G
G
 5 a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0015t0001g0189
others(2): Show 
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0015t0001g0189
a0003c0046t0001g0002
a0026c0044t0001g0037
 5 HG00733.hp2
HG02683.hp1
HG02922.hp2
others(2): Show 
HG00733.hp2
HG02683.hp1
HG02922.hp2
NA18964.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-2225A>G
c.2684-2225A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501786
chr21:45501786 ACAGCCGG
others(253): Show 
ACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAG
GACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTC
AGGGGCCTCCG
 A
A
 4 a0001c0001t0001g0228
a0001c0003t0001g0085
a0001c0003t0001g0254
others(1): Show 
a0001c0001t0001g0228
a0001c0003t0001g0085
a0001c0003t0001g0254
a0001c0008t0002g0240
 4 HG00639.hp1
HG01106.hp1
HG02004.hp2
others(1): Show 
HG00639.hp1
HG01106.hp1
HG02004.hp2
NA18949.hp1
 intron_variant MODIFIER c.2684-2210_2684-195
others(4): Show 
c.2684-2210_2684-1951del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501786
chr21:45501787 C
C
 A
A
 21 a0001c0001t0001g0126
a0001c0001t0001g0234
a0001c0001t0001g0273
others(18): Show 
a0001c0001t0001g0126
a0001c0001t0001g0234
a0001c0001t0001g0273
a0001c0002t0002g0023
a0001c0002t0002g0133
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0181
a0001c0003t0001g0221
a0001c0004t0001g0032
a0001c0005t0002g0232
a0001c0005t0003g0211
a0001c0005t0007g0263
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0098t0001g0007
a0002c0083t0001g0237
a0003c0010t0006g0014
a0021c0086t0002g0176
a0030c0056t0001g0044
 21 HG00099.hp2
HG00140.hp1
HG00558.hp2
others(18): Show 
HG00099.hp2
HG00140.hp1
HG00558.hp2
HG01496.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp1
HG02451.hp2
HG02735.hp1
HG03486.hp2
HG03710.hp2
HG04115.hp1
HG04228.hp2
NA18747.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp2
NA19060.hp1
 intron_variant MODIFIER c.2684-2224C>A
c.2684-2224C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(466): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTTCAA
 1 a0006c0072t0002g0082
a0006c0072t0002g0082
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.2684-2211_2684-221
others(477): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCC
CAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGC
TCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAG
CCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCA
CCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(165): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0080t0004g0057
a0001c0080t0004g0057
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.2684-2211_2684-221
others(176): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(36): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 5 a0001c0005t0007g0262
a0004c0099t0003g0030
a0012c0065t0002g0096
others(2): Show 
a0001c0005t0007g0262
a0004c0099t0003g0030
a0012c0065t0002g0096
a0028c0097t0001g0036
a0031c0092t0011g0190
 5 HG01496.hp1
HG02922.hp1
HG03942.hp1
others(2): Show 
HG01496.hp1
HG02922.hp1
HG03942.hp1
NA18954.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(47): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(208): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAA
 1 a0002c0012t0004g0058
a0002c0012t0004g0058
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.2684-2211_2684-221
others(219): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(122): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0002c0067t0001g0041
a0002c0067t0001g0041
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(133): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCAC
CTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(424): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTT
CAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCC
GGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACC
TCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0035t0001g0073
a0001c0035t0001g0073
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(435): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCT
CTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGA
AGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCC
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(510): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTT
CAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCC
GGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACC
TCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCT
GCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAG
GACCCCCAGGGGCTTCAA
 1 a0001c0035t0001g0072
a0001c0035t0001g0072
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(521): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT
TCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCT
CTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGA
AGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCC
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(123): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CTCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0007t0002g0194
a0001c0007t0002g0194
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.2684-2211_2684-221
others(134): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCC
TCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAG
CCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCA
CCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(210): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAG
GACCCCCAGGGGCTTCAA
 1 a0001c0005t0002g0224
a0001c0005t0002g0224
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(221): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAG
CCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCA
CCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 C
C
 CAGCCGGT
others(208): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCTCTCTGCAGAAGGA
CCCCCAGGGGCTTCAA
 1 a0001c0003t0001g0193
a0001c0003t0001g0193
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2684-2211_2684-221
others(219): Show 
c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCTCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCTCTC
TGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501787 CAGCCGGT
others(79): Show 
CAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 C
C
 3 a0001c0001t0001g0103
a0001c0002t0002g0283
a0001c0004t0001g0225
a0001c0001t0001g0103
a0001c0002t0002g0283
a0001c0004t0001g0225
 3 HG03831.hp2
NA18952.hp2
NA18995.hp2
HG03831.hp2
NA18952.hp2
NA18995.hp2
 intron_variant MODIFIER c.2684-2210_2684-212
others(90): Show 
c.2684-2210_2684-2125delTCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGC
CGGTCACCTC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501787
chr21:45501801 T
T
 C
C
 178 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(175): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0133
a0001c0002t0002g0140
a0001c0002t0002g0236
a0001c0002t0002g0269
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0087t0001g0055
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0015t0001g0189
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 178 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(175): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18945.hp1
NA18949.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18975.hp2
NA18977.hp1
NA18983.hp2
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2684-2210T>C
c.2684-2210T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501801
chr21:45501801 TCTCTGCA
others(122): Show 
TCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCC
 T
T
 1 a0001c0002t0001g0080
a0001c0002t0001g0080
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.2684-2193_2684-206
others(4): Show 
c.2684-2193_2684-2065del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501801
chr21:45501806 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2684-2205G>A
c.2684-2205G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501806
chr21:45501815 C
C
 T
T
 3 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
 3 HG01243.hp1
HG02258.hp1
HG02723.hp2
HG01243.hp1
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.2684-2196C>T
c.2684-2196C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501815
chr21:45501818 C
C
 CCAGGGGC
others(79): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0004t0001g0213
a0001c0004t0001g0213
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2684-2151_2684-215
others(90): Show 
c.2684-2151_2684-2150insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501818
chr21:45501818 C
C
 T
T
 30 a0001c0001t0001g0033
a0001c0001t0001g0175
a0001c0001t0001g0192
others(27): Show 
a0001c0001t0001g0033
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0005t0002g0239
a0001c0013t0002g0207
a0001c0019t0003g0065
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0073t0003g0034
a0002c0012t0004g0199
a0002c0084t0002g0212
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0292
a0005c0058t0001g0165
a0009c0016t0001g0084
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0018c0095t0001g0146
 30 HG00438.hp2
HG00544.hp2
HG01070.hp2
others(27): Show 
HG00438.hp2
HG00544.hp2
HG01070.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02071.hp2
HG02109.hp1
HG02145.hp1
HG02273.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03831.hp1
HG03834.hp2
NA18906.hp2
NA18953.hp1
NA18966.hp2
NA18977.hp1
NA19057.hp1
NA19065.hp2
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2193C>T
c.2684-2193C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501818
chr21:45501823 G
G
 A
A
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2684-2188G>A
c.2684-2188G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501823
chr21:45501824 G
G
 GC
GC
 3 a0001c0004t0001g0112
a0001c0041t0001g0155
a0018c0095t0001g0146
a0001c0004t0001g0112
a0001c0041t0001g0155
a0018c0095t0001g0146
 3 HG02145.hp1
HG03834.hp2
NA21309.hp1
HG02145.hp1
HG03834.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2186dupC
c.2684-2186dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501824
chr21:45501825 CTCCACAG
others(35): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 C
C
 1 a0002c0084t0002g0212
a0002c0084t0002g0212
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.2684-2185_2684-214
others(46): Show 
c.2684-2185_2684-2144delTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501825
chr21:45501825 CTCCACAG
others(252): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGA
CCCCCAGGGG
 C
C
 6 a0001c0001t0001g0175
a0001c0004t0001g0222
a0005c0058t0001g0165
others(3): Show 
a0001c0001t0001g0175
a0001c0004t0001g0222
a0005c0058t0001g0165
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
 6 HG02071.hp2
NA18953.hp1
NA18966.hp2
others(3): Show 
HG02071.hp2
NA18953.hp1
NA18966.hp2
NA19057.hp1
NA19065.hp2
NA19074.hp1
 intron_variant MODIFIER c.2684-2185_2684-192
others(4): Show 
c.2684-2185_2684-1927del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501825
chr21:45501827 C
C
 T
T
 57 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(54): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0277
a0001c0002t0002g0140
a0001c0002t0002g0235
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0026
a0001c0004t0001g0071
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0280
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0087t0001g0055
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
 57 HG00099.hp2
HG00438.hp1
HG00597.hp2
others(54): Show 
HG00099.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02055.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18945.hp1
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19043.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19240.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2184C>T
c.2684-2184C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501827
chr21:45501829 A
A
 ACAGCCGG
others(37): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-2151_2684-215
others(48): Show 
c.2684-2151_2684-2150insTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501829
chr21:45501829 A
A
 G
G
 3 a0001c0004t0001g0112
a0001c0041t0001g0155
a0018c0095t0001g0146
a0001c0004t0001g0112
a0001c0041t0001g0155
a0018c0095t0001g0146
 3 HG02145.hp1
HG03834.hp2
NA21309.hp1
HG02145.hp1
HG03834.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2182A>G
c.2684-2182A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501829
chr21:45501830 C
C
 A
A
 56 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(53): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0002t0002g0140
a0001c0002t0002g0235
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0026
a0001c0004t0001g0071
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0280
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0082t0008g0053
a0001c0087t0001g0055
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
 56 HG00099.hp2
HG00438.hp1
HG00597.hp2
others(53): Show 
HG00099.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01106.hp2
HG01123.hp2
HG01361.hp2
HG01943.hp1
HG01993.hp2
HG02055.hp2
HG02080.hp1
HG02129.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02717.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03579.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18969.hp2
NA18977.hp2
NA18990.hp2
NA19043.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
NA19240.hp2
NA20300.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2181C>A
c.2684-2181C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501830
chr21:45501830 C
C
 CAGCCGGT
others(337): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0001c0004t0001g0018
a0001c0004t0001g0018
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2684-2142_2684-214
others(348): Show 
c.2684-2142_2684-2141insCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501830
chr21:45501830 C
C
 CAGCCGGT
others(296): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAG
GACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCC
AGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCT
TCAA
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.2684-2142_2684-214
others(307): Show 
c.2684-2142_2684-2141insCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501830
chr21:45501830 CAGCCGGT
others(36): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 C
C
 11 a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0246
others(8): Show 
a0001c0001t0001g0093
a0001c0001t0001g0124
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0002t0002g0092
a0001c0002t0002g0104
a0001c0002t0002g0269
a0001c0006t0003g0079
a0001c0081t0003g0154
a0003c0010t0002g0151
a0034c0075t0001g0116
 11 HG00621.hp1
HG01993.hp1
HG02132.hp1
others(8): Show 
HG00621.hp1
HG01993.hp1
HG02132.hp1
NA18944.hp1
NA18949.hp2
NA18959.hp1
NA18961.hp1
NA18975.hp2
NA18983.hp2
NA19070.hp2
NA19088.hp1
 intron_variant MODIFIER c.2684-2141_2684-209
others(47): Show 
c.2684-2141_2684-2099delTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501830
chr21:45501844 C
C
 T
T
 6 a0001c0001t0001g0191
a0001c0003t0001g0181
a0001c0003t0001g0193
others(3): Show 
a0001c0001t0001g0191
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0007t0002g0185
a0001c0007t0002g0194
a0012c0065t0002g0096
 6 HG02055.hp1
HG02129.hp1
HG02818.hp2
others(3): Show 
HG02055.hp1
HG02129.hp1
HG02818.hp2
HG03195.hp2
HG03942.hp1
NA19010.hp1
 intron_variant MODIFIER c.2684-2167C>T
c.2684-2167C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501844
chr21:45501849 G
G
 A
A
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2684-2162G>A
c.2684-2162G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501849
chr21:45501851 A
A
 AGAAGGAC
others(37): Show 
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC
 1 a0009c0016t0001g0084
a0009c0016t0001g0084
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.2684-2151_2684-215
others(48): Show 
c.2684-2151_2684-2150insTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCCGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501851
chr21:45501851 AGAAGGAC
others(210): Show 
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAG
GGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTC
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGC
CGGTCACCTCCCTCTGCC
 A
A
 7 a0001c0002t0002g0140
a0001c0017t0002g0179
a0003c0009t0001g0167
others(4): Show 
a0001c0002t0002g0140
a0001c0017t0002g0179
a0003c0009t0001g0167
a0003c0010t0002g0068
a0003c0015t0001g0189
a0012c0088t0002g0006
a0030c0056t0001g0044
 7 HG00733.hp1
HG00738.hp2
HG02683.hp1
others(4): Show 
HG00733.hp1
HG00738.hp2
HG02683.hp1
HG03486.hp2
NA18522.hp1
NA18964.hp2
NA20905.hp2
 intron_variant MODIFIER c.2684-2141_2684-192
others(4): Show 
c.2684-2141_2684-1925del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501851
chr21:45501858 C
C
 T
T
 3 a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
 3 HG01243.hp1
HG02258.hp1
HG02723.hp2
HG01243.hp1
HG02258.hp1
HG02723.hp2
 intron_variant MODIFIER c.2684-2153C>T
c.2684-2153C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501858
chr21:45501861 C
C
 CCAGGGGC
others(36): Show 
CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0002c0021t0002g0186
a0002c0021t0002g0186
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.2684-2142_2684-214
others(47): Show 
c.2684-2142_2684-2141insCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCTCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501861
chr21:45501861 C
C
 T
T
 21 a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0004t0001g0013
others(18): Show 
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0004t0001g0013
a0001c0004t0001g0174
a0001c0004t0001g0255
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0098t0001g0007
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0083t0001g0237
a0004c0057t0002g0035
a0005c0036t0001g0292
a0019c0096t0015g0045
a0023c0085t0002g0106
a0029c0071t0002g0134
a0032c0052t0002g0077
 21 HG00099.hp1
HG00140.hp2
HG00438.hp2
others(18): Show 
HG00099.hp1
HG00140.hp2
HG00438.hp2
HG00544.hp2
HG00639.hp2
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01192.hp2
HG01891.hp1
HG02280.hp1
HG02451.hp2
HG02622.hp2
HG02809.hp2
HG03041.hp1
HG03710.hp2
HG03927.hp2
HG06807.hp2
NA18953.hp2
NA18959.hp2
NA18977.hp1
 intron_variant MODIFIER c.2684-2150C>T
c.2684-2150C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501861
chr21:45501861 CCAGGGGC
others(123): Show 
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 C
C
 2 a0001c0001t0001g0243
a0001c0002t0002g0091
a0001c0001t0001g0243
a0001c0002t0002g0091
 2 HG03704.hp1
HG03834.hp1
HG03704.hp1
HG03834.hp1
 intron_variant MODIFIER c.2684-2141_2684-201
others(4): Show 
c.2684-2141_2684-2012del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501861
chr21:45501867 G
G
 GC
GC
 3 a0001c0004t0001g0013
a0001c0004t0001g0255
a0005c0036t0001g0292
a0001c0004t0001g0013
a0001c0004t0001g0255
a0005c0036t0001g0292
 3 HG00438.hp2
HG00544.hp2
NA18977.hp1
HG00438.hp2
HG00544.hp2
NA18977.hp1
 intron_variant MODIFIER c.2684-2143dupC
c.2684-2143dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501867
chr21:45501867 GCTTCAAA
others(167): Show 
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGG
TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGC
 G
G
 3 a0001c0003t0001g0081
a0001c0003t0003g0264
a0001c0037t0001g0157
a0001c0003t0001g0081
a0001c0003t0003g0264
a0001c0037t0001g0157
 3 HG01123.hp2
HG03195.hp1
NA18969.hp2
HG01123.hp2
HG03195.hp1
NA18969.hp2
 intron_variant MODIFIER c.2684-2141_2684-196
others(4): Show 
c.2684-2141_2684-1968del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501867
chr21:45501868 CTTCAAAG
others(209): Show 
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGC
CGAAGGACCCCCAGGGG
 C
C
 2 a0001c0098t0001g0007
a0002c0012t0004g0199
a0001c0098t0001g0007
a0002c0012t0004g0199
 2 HG02451.hp2
HG02622.hp2
HG02451.hp2
HG02622.hp2
 intron_variant MODIFIER c.2684-2142_2684-192
others(4): Show 
c.2684-2142_2684-1927del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501868
chr21:45501870 T
T
 C
C
 114 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(111): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0234
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0003t0001g0110
a0001c0004t0001g0013
a0001c0004t0001g0026
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0207
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0090t0002g0089
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0010t0006g0014
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0292
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0027c0070t0001g0012
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0035c0078t0001g0115
 114 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(111): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp2
NA18964.hp1
NA18977.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19007.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2684-2141T>C
c.2684-2141T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501870
chr21:45501870 T
T
 G
G
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-2141T>G
c.2684-2141T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501870
chr21:45501872 A
A
 G
G
 10 a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
others(7): Show 
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0004t0001g0013
a0001c0004t0001g0255
a0001c0090t0002g0089
a0002c0084t0002g0212
a0005c0036t0001g0292
 10 HG00323.hp2
HG00438.hp2
HG00544.hp2
others(7): Show 
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00735.hp1
HG01255.hp2
HG01515.hp2
HG01517.hp2
HG02698.hp2
HG03831.hp1
NA18977.hp1
 intron_variant MODIFIER c.2684-2139A>G
c.2684-2139A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501872
chr21:45501873 A
A
 C
C
 115 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(112): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0234
a0001c0001t0001g0248
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0235
a0001c0002t0002g0236
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0002t0017g0216
a0001c0003t0001g0110
a0001c0004t0001g0013
a0001c0004t0001g0026
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0274
a0001c0004t0016g0051
a0001c0005t0002g0232
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0003g0211
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0208
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0207
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0087t0001g0055
a0001c0090t0002g0089
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0010t0006g0014
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0292
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0031t0002g0160
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0027c0070t0001g0012
a0031c0092t0011g0190
a0032c0052t0002g0077
a0033c0077t0003g0098
a0035c0078t0001g0115
 115 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(112): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18945.hp1
NA18953.hp2
NA18954.hp2
NA18959.hp2
NA18964.hp1
NA18977.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19007.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2684-2138A>C
c.2684-2138A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501873
chr21:45501887 C
C
 T
T
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2684-2124C>T
c.2684-2124C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501887
chr21:45501892 G
G
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2684-2119G>A
c.2684-2119G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501892
chr21:45501894 A
A
 AGAAGGAC
others(295): Show 
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCTCAGGGGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCAGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCT
GCC
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2684-2057_2684-205
others(306): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCTCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCTCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCAGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCG
GTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501894
chr21:45501894 A
A
 C
C
 1 a0001c0013t0002g0206
a0001c0013t0002g0206
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.2684-2117A>C
c.2684-2117A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501894
chr21:45501894 AGAAGGAC
others(167): Show 
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCT
CCGCAGCCGGTCACCTCCCTCTGCC
 A
A
 9 a0001c0001t0001g0266
a0001c0003t0001g0221
a0001c0006t0003g0177
others(6): Show 
a0001c0001t0001g0266
a0001c0003t0001g0221
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0016c0042t0001g0118
 9 HG00099.hp2
HG01192.hp1
HG01257.hp1
others(6): Show 
HG00099.hp2
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01943.hp2
HG01981.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-2064_2684-189
others(4): Show 
c.2684-2064_2684-1891del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501894
chr21:45501904 C
C
 CCAGGGGC
others(337): Show 
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCT
 1 a0001c0005t0002g0239
a0001c0005t0002g0239
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.2684-2099_2684-209
others(348): Show 
c.2684-2099_2684-2098insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501904
chr21:45501904 C
C
 CCAGGGGC
others(510): Show 
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCT
 1 a0004c0057t0002g0035
a0004c0057t0002g0035
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2684-2099_2684-209
others(521): Show 
c.2684-2099_2684-2098insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501904
chr21:45501904 C
C
 T
T
 26 a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0192
others(23): Show 
a0001c0001t0001g0025
a0001c0001t0001g0127
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0003t0001g0110
a0001c0005t0006g0218
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0079t0001g0042
a0001c0087t0001g0055
a0001c0090t0002g0089
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 26 HG00323.hp2
HG00609.hp2
HG00735.hp1
others(23): Show 
HG00323.hp2
HG00609.hp2
HG00735.hp1
HG01167.hp1
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01515.hp2
HG01517.hp2
HG02080.hp1
HG02257.hp2
HG02258.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02895.hp1
HG03041.hp2
HG03453.hp2
HG03471.hp1
HG03710.hp2
HG03831.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.2684-2107C>T
c.2684-2107C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501904
chr21:45501909 G
G
 A
A
 1 a0001c0019t0003g0139
a0001c0019t0003g0139
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.2684-2102G>A
c.2684-2102G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501909
chr21:45501910 G
G
 GC
GC
 4 a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0148
others(1): Show 
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0148
a0002c0021t0002g0186
 4 HG01074.hp2
HG01081.hp1
HG03041.hp1
others(1): Show 
HG01074.hp2
HG01081.hp1
HG03041.hp1
NA18906.hp1
 intron_variant MODIFIER c.2684-2100dupC
c.2684-2100dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501910
chr21:45501911 CTCCACAG
others(166): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTC
CCTCTGCCGAAGGACCCCCAGGGG
 C
C
 2 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0038t0004g0028
a0001c0038t0004g0029
 2 HG02572.hp1
HG02622.hp1
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.2684-2099_2684-192
others(4): Show 
c.2684-2099_2684-1927del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501911
chr21:45501913 C
C
 T
T
 21 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0003t0001g0181
others(18): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0026
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0017t0003g0205
a0001c0093t0001g0251
a0005c0036t0001g0292
a0006c0028t0003g0230
a0009c0016t0001g0209
a0009c0016t0002g0252
a0032c0052t0002g0077
 21 HG00140.hp2
HG00280.hp1
HG00438.hp2
others(18): Show 
HG00140.hp2
HG00280.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp2
HG00738.hp1
HG01123.hp1
HG02055.hp1
HG02129.hp1
HG02486.hp2
HG02615.hp2
HG03195.hp2
HG03239.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18977.hp1
NA19002.hp2
NA19010.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.2684-2098C>T
c.2684-2098C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501913
chr21:45501915 ACAGCCGG
others(37): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 A
A
 1 a0006c0026t0001g0083
a0006c0026t0001g0083
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.2684-2056_2684-201
others(48): Show 
c.2684-2056_2684-2013delCTCCGCAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501915
chr21:45501916 C
C
 A
A
 21 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0003t0001g0181
others(18): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0026
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0017t0003g0205
a0001c0093t0001g0251
a0005c0036t0001g0292
a0006c0028t0003g0230
a0009c0016t0001g0209
a0009c0016t0002g0252
a0032c0052t0002g0077
 21 HG00140.hp2
HG00280.hp1
HG00438.hp2
others(18): Show 
HG00140.hp2
HG00280.hp1
HG00438.hp2
HG00544.hp2
HG00621.hp2
HG00738.hp1
HG01123.hp1
HG02055.hp1
HG02129.hp1
HG02486.hp2
HG02615.hp2
HG03195.hp2
HG03239.hp2
HG03688.hp2
HG03927.hp1
HG04184.hp1
NA18977.hp1
NA19002.hp2
NA19010.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.2684-2095C>A
c.2684-2095C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501916
chr21:45501927 C
C
 G
G
 1 a0012c0065t0002g0096
a0012c0065t0002g0096
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2684-2084C>G
c.2684-2084C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501927
chr21:45501935 G
G
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2684-2076G>A
c.2684-2076G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501935
chr21:45501936 C
C
 T
T
 1 a0001c0001t0001g0234
a0001c0001t0001g0234
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.2684-2075C>T
c.2684-2075C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501936
chr21:45501937 AGAAGGAC
others(124): Show 
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCA
GGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC
 A
A
 32 a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
others(29): Show 
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0249
a0001c0003t0001g0261
a0001c0003t0008g0166
a0001c0004t0001g0071
a0001c0005t0002g0217
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0220
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0054t0002g0201
a0001c0082t0008g0053
a0005c0060t0001g0063
a0006c0026t0003g0219
a0006c0028t0003g0230
a0009c0016t0001g0209
 32 HG00280.hp1
HG00438.hp1
HG00597.hp2
others(29): Show 
HG00280.hp1
HG00438.hp1
HG00597.hp2
HG00735.hp2
HG01106.hp2
HG01123.hp1
HG01243.hp1
HG01943.hp1
HG01993.hp2
HG02055.hp2
HG02129.hp2
HG02155.hp2
HG02258.hp1
HG02602.hp2
HG02723.hp2
HG02818.hp1
HG02970.hp2
HG03209.hp1
HG03239.hp2
HG03579.hp2
HG03942.hp2
HG04204.hp2
NA18612.hp2
NA18952.hp1
NA18954.hp1
NA18961.hp2
NA18977.hp2
NA18990.hp2
NA19064.hp2
NA19070.hp1
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-2064_2684-193
others(4): Show 
c.2684-2064_2684-1934del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501937
chr21:45501947 T
T
 C
C
 67 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
others(64): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0003g0143
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0090t0002g0089
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0103t0001g0136
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0023t0002g0163
a0005c0036t0001g0292
a0009c0016t0001g0084
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0023c0085t0002g0106
a0025c0050t0002g0108
a0026c0044t0001g0037
a0029c0071t0002g0134
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 67 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(64): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG01070.hp2
HG01167.hp1
HG01192.hp2
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18953.hp2
NA18959.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19057.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2064T>C
c.2684-2064T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501947
chr21:45501953 GC
GC
 G
G
 48 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0150
others(45): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0193
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0087
a0001c0004t0001g0112
a0001c0004t0001g0255
a0001c0004t0016g0051
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0007t0002g0194
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0004c0091t0001g0056
a0005c0036t0001g0292
a0009c0016t0001g0084
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0029c0071t0002g0134
a0032c0052t0002g0077
 48 HG00099.hp1
HG00140.hp2
HG00438.hp2
others(45): Show 
HG00099.hp1
HG00140.hp2
HG00438.hp2
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG01070.hp2
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01891.hp1
HG01978.hp2
HG02055.hp1
HG02145.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03654.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
NA18906.hp2
NA18977.hp1
NA19060.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.2684-2056delC
c.2684-2056delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501953
chr21:45501953 GCCTCCGC
others(81): Show 
GCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGC
 G
G
 9 a0001c0003t0001g0181
a0001c0004t0001g0214
a0001c0007t0002g0185
others(6): Show 
a0001c0003t0001g0181
a0001c0004t0001g0214
a0001c0007t0002g0185
a0001c0007t0002g0208
a0003c0046t0001g0002
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0026c0044t0001g0037
 9 HG00733.hp2
HG00738.hp1
HG02129.hp1
others(6): Show 
HG00733.hp2
HG00738.hp1
HG02129.hp1
HG02258.hp2
HG02572.hp2
HG02717.hp2
HG02922.hp2
HG03688.hp2
NA19010.hp1
 intron_variant MODIFIER c.2684-2056_2684-196
others(92): Show 
c.2684-2056_2684-1969delCTCCGCAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCTCAGGGGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501953
chr21:45501954 C
C
 CTCCACAG
others(1454): Show 
CTCCACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCTGCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTAC
AGAAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTGCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTGCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTG
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCC
GGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTCACC
TCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCT
GCAGAAGGACCCTCAGGGGCTGCACAGCCGGTCACCTCCCTCTGCAGAAG
GACCCCCAGGGG
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(1465): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTACA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGAT
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTAC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTGC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGG
ATCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGACCCCCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTC
CACAGCCGGTCACCTCCCTCTACAGAAGGATCCCCAGGGGCTCCACAGCC
GGTCACCTCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACC
TCCCTCTACAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCT
GCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAG
GACCCTCAGGGGCTGCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCC
AGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCT
CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTGCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCTCAGGGGCTGCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGATCCC
CAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGC
TCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTGCACAG
CCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(35): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 5 a0001c0002t0003g0143
a0001c0004t0001g0090
a0004c0023t0002g0138
others(2): Show 
a0001c0002t0003g0143
a0001c0004t0001g0090
a0004c0023t0002g0138
a0004c0023t0002g0163
a0012c0065t0002g0096
 5 HG01891.hp2
HG03225.hp1
HG03942.hp1
others(2): Show 
HG01891.hp2
HG03225.hp1
HG03942.hp1
NA18953.hp2
NA20129.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(46): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(164): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGG
 1 a0001c0005t0002g0224
a0001c0005t0002g0224
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(175): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(380): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0009c0016t0002g0252
a0009c0016t0002g0252
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.2684-2057_2684-205
others(391): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC
AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(121): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0001c0004t0001g0064
a0001c0004t0001g0064
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(132): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(207): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGG
 1 a0001c0004t0001g0290
a0001c0004t0001g0290
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(218): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(293): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
G
 1 a0001c0005t0006g0218
a0001c0005t0006g0218
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.2684-2057_2684-205
others(304): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(293): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
G
 1 a0001c0073t0003g0034
a0001c0073t0003g0034
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.2684-2057_2684-205
others(304): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(164): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGG
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(175): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(336): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0001c0004t0001g0174
a0001c0004t0001g0174
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(347): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(293): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAG
AAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
G
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(304): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTACAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(293): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
G
 1 a0001c0004t0001g0267
a0001c0004t0001g0267
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(304): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(122): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGG
 2 a0001c0003t0001g0287
a0028c0097t0001g0036
a0001c0003t0001g0287
a0028c0097t0001g0036
 2 HG01346.hp2
NA21309.hp2
HG01346.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(133): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(380): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0002c0067t0001g0041
a0002c0067t0001g0041
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(391): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC
AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTCCACAG
others(379): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0002c0103t0001g0136
a0002c0103t0001g0136
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2684-2057_2684-205
others(390): Show 
c.2684-2057_2684-2056insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTTCAAAG
others(35): Show 
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 5 a0001c0004t0001g0213
a0001c0004t0001g0271
a0001c0019t0003g0170
others(2): Show 
a0001c0004t0001g0213
a0001c0004t0001g0271
a0001c0019t0003g0170
a0001c0035t0001g0073
a0021c0086t0002g0176
 5 HG00423.hp1
HG03540.hp2
HG04115.hp1
others(2): Show 
HG00423.hp1
HG03540.hp2
HG04115.hp1
NA19057.hp2
NA20129.hp1
 intron_variant MODIFIER c.2684-2057_2684-205
others(46): Show 
c.2684-2057_2684-2056insTTCAAAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTTCAAAG
others(121): Show 
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGG
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(132): Show 
c.2684-2057_2684-2056insTTCAAAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501954 C
C
 CTTCAAAG
others(78): Show 
CTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
 3 a0001c0035t0001g0072
a0036c0048t0004g0184
a0037c0049t0004g0183
a0001c0035t0001g0072
a0036c0048t0004g0184
a0037c0049t0004g0183
 3 HG02809.hp1
HG02886.hp1
NA19005.hp2
HG02809.hp1
HG02886.hp1
NA19005.hp2
 intron_variant MODIFIER c.2684-2057_2684-205
others(89): Show 
c.2684-2057_2684-2056insTTCAAAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501954
chr21:45501955 C
C
 T
T
 1 a0001c0001t0001g0234
a0001c0001t0001g0234
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.2684-2056C>T
c.2684-2056C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501955
chr21:45501957 C
C
 G
G
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-2054C>G
c.2684-2054C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501957
chr21:45501957 C
C
 T
T
 8 a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
others(5): Show 
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0013t0002g0207
a0001c0079t0001g0042
a0002c0012t0004g0040
a0025c0050t0002g0108
a0032c0052t0002g0077
 8 HG00140.hp2
HG01978.hp2
HG02886.hp2
others(5): Show 
HG00140.hp2
HG01978.hp2
HG02886.hp2
HG03471.hp1
HG03654.hp1
HG04184.hp2
NA19060.hp1
NA19240.hp1
 intron_variant MODIFIER c.2684-2054C>T
c.2684-2054C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501957
chr21:45501959 G
G
 A
A
 78 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(75): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0142
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0194
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0103t0001g0136
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0091t0001g0056
a0005c0036t0001g0292
a0009c0016t0001g0084
a0009c0016t0002g0252
a0012c0065t0002g0096
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
a0029c0071t0002g0134
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 78 HG00099.hp1
HG00140.hp2
HG00423.hp1
others(75): Show 
HG00099.hp1
HG00140.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG01070.hp2
HG01167.hp1
HG01192.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG06807.hp2
NA18906.hp2
NA18953.hp2
NA18959.hp2
NA18977.hp1
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2684-2052G>A
c.2684-2052G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501959
chr21:45501959 G
G
 GCAGCCGG
others(79): Show 
GCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCA
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.2684-2021_2684-202
others(90): Show 
c.2684-2021_2684-2020insCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501959
chr21:45501959 GCAGCCGG
others(123): Show 
GCAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACC
TCCCTCTGCCGAAGGACCCCCAGGGGCTCCA
 G
G
 2 a0001c0004t0001g0274
a0002c0083t0001g0237
a0001c0004t0001g0274
a0002c0083t0001g0237
 2 HG00609.hp1
HG03710.hp2
HG00609.hp1
HG03710.hp2
 intron_variant MODIFIER c.2684-2020_2684-189
others(4): Show 
c.2684-2020_2684-1891del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501959
chr21:45501960 C
C
 A
A
 8 a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
others(5): Show 
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0013t0002g0207
a0001c0079t0001g0042
a0002c0012t0004g0040
a0025c0050t0002g0108
a0032c0052t0002g0077
 8 HG00140.hp2
HG01978.hp2
HG02886.hp2
others(5): Show 
HG00140.hp2
HG01978.hp2
HG02886.hp2
HG03471.hp1
HG03654.hp1
HG04184.hp2
NA19060.hp1
NA19240.hp1
 intron_variant MODIFIER c.2684-2051C>A
c.2684-2051C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501960
chr21:45501960 C
C
 CAGCCGGT
others(685): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTC
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGC
CGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCC
TCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0007c0031t0002g0160
a0007c0031t0002g0160
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.2684-1978_2684-197
others(696): Show 
c.2684-1978_2684-1977insCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTC
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGC
CGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCC
TCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501960
chr21:45501965 G
G
 A
A
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2684-2046G>A
c.2684-2046G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501965
chr21:45501981 A
A
 C
C
 7 a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
others(4): Show 
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0090t0002g0089
a0002c0084t0002g0212
 7 HG00323.hp2
HG00735.hp1
HG01255.hp2
others(4): Show 
HG00323.hp2
HG00735.hp1
HG01255.hp2
HG01515.hp2
HG01517.hp2
HG02698.hp2
HG03831.hp1
 intron_variant MODIFIER c.2684-2030A>C
c.2684-2030A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501981
chr21:45501991 T
T
 C
C
 56 a0001c0001t0001g0033
a0001c0001t0001g0127
a0001c0001t0001g0142
others(53): Show 
a0001c0001t0001g0033
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0150
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0090
a0001c0004t0001g0255
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0002g0207
a0001c0013t0014g0210
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0087t0001g0055
a0001c0090t0002g0089
a0002c0012t0004g0040
a0002c0084t0002g0212
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0005c0036t0001g0292
a0006c0026t0001g0083
a0009c0016t0001g0084
a0009c0016t0002g0252
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0021c0086t0002g0176
a0029c0071t0002g0134
a0032c0052t0002g0077
 56 HG00099.hp1
HG00140.hp2
HG00323.hp2
others(53): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG01070.hp2
HG01192.hp2
HG01255.hp2
HG01258.hp2
HG01261.hp2
HG01346.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01978.hp2
HG02080.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03471.hp1
HG03540.hp1
HG03831.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
NA18953.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.2684-2020T>C
c.2684-2020T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501991
chr21:45501991 T
T
 TCAGGGGC
others(80): Show 
TCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCC
 2 a0001c0004t0001g0087
a0004c0091t0001g0056
a0001c0004t0001g0087
a0004c0091t0001g0056
 2 HG01346.hp1
HG02451.hp1
HG01346.hp1
HG02451.hp1
 intron_variant MODIFIER c.2684-2013_2684-201
others(91): Show 
c.2684-2013_2684-2012insCTCCGCAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501991
chr21:45501991 T
T
 TCAGGGGC
others(295): Show 
TCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCC
 2 a0022c0068t0010g0004
a0024c0066t0010g0066
a0022c0068t0010g0004
a0024c0066t0010g0066
 2 HG02895.hp2
NA19240.hp2
HG02895.hp2
NA19240.hp2
 intron_variant MODIFIER c.2684-2013_2684-201
others(306): Show 
c.2684-2013_2684-2012insCTCCGCAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTC
AAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45501991
chr21:45501998 CTCCACAG
others(79): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGC
AGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGG
 C
C
 4 a0001c0017t0003g0284
a0001c0041t0001g0155
a0002c0012t0004g0049
others(1): Show 
a0001c0017t0003g0284
a0001c0041t0001g0155
a0002c0012t0004g0049
a0018c0095t0001g0146
 4 HG02145.hp1
HG02615.hp1
HG03486.hp1
others(1): Show 
HG02145.hp1
HG02615.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.2684-2012_2684-192
others(90): Show 
c.2684-2012_2684-1927delTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGA
CCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45501998
chr21:45502000 C
C
 T
T
 8 a0001c0001t0001g0127
a0001c0001t0001g0191
a0001c0003t0001g0110
others(5): Show 
a0001c0001t0001g0127
a0001c0001t0001g0191
a0001c0003t0001g0110
a0001c0087t0001g0055
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 8 HG01258.hp2
HG02257.hp2
HG02559.hp1
others(5): Show 
HG01258.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03041.hp2
NA19043.hp2
 intron_variant MODIFIER c.2684-2011C>T
c.2684-2011C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502000
chr21:45502002 ACAGCCGG
others(37): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 A
A
 7 a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
others(4): Show 
a0001c0001t0001g0203
a0001c0002t0002g0088
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0090t0002g0089
a0002c0084t0002g0212
 7 HG00323.hp2
HG00735.hp1
HG01255.hp2
others(4): Show 
HG00323.hp2
HG00735.hp1
HG01255.hp2
HG01515.hp2
HG01517.hp2
HG02698.hp2
HG03831.hp1
 intron_variant MODIFIER c.2684-1987_2684-194
others(48): Show 
c.2684-1987_2684-1944delAGAAGGACCCTCAGGGGCCTCCGCAG
CCGGTCACCTCCCTCTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502002
chr21:45502003 C
C
 A
A
 8 a0001c0001t0001g0127
a0001c0001t0001g0191
a0001c0003t0001g0110
others(5): Show 
a0001c0001t0001g0127
a0001c0001t0001g0191
a0001c0003t0001g0110
a0001c0087t0001g0055
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 8 HG01258.hp2
HG02257.hp2
HG02559.hp1
others(5): Show 
HG01258.hp2
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02895.hp1
HG03041.hp2
NA19043.hp2
 intron_variant MODIFIER c.2684-2008C>A
c.2684-2008C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502003
chr21:45502022 G
G
 A
A
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-1989G>A
c.2684-1989G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502022
chr21:45502024 A
A
 AGAAGGAC
others(36): Show 
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCC
 2 a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0074t0004g0200
a0001c0079t0001g0042
 2 HG03471.hp1
HG03540.hp1
HG03471.hp1
HG03540.hp1
 intron_variant MODIFIER c.2684-1978_2684-197
others(47): Show 
c.2684-1978_2684-1977insCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCCGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502024
chr21:45502024 A
A
 C
C
 3 a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0073t0003g0034
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0073t0003g0034
 3 HG01891.hp1
HG02109.hp1
NA20129.hp1
HG01891.hp1
HG02109.hp1
NA20129.hp1
 intron_variant MODIFIER c.2684-1987A>C
c.2684-1987A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502024
chr21:45502024 AGAAGGAC
others(37): Show 
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC
 A
A
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2684-1977_2684-193
others(48): Show 
c.2684-1977_2684-1934delTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCCGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502024
chr21:45502031 C
C
 T
T
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-1980C>T
c.2684-1980C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502031
chr21:45502034 T
T
 C
C
 42 a0001c0001t0001g0127
a0001c0001t0001g0191
a0001c0002t0012g0109
others(39): Show 
a0001c0001t0001g0127
a0001c0001t0001g0191
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0004t0001g0018
a0001c0004t0001g0087
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0239
a0001c0013t0002g0207
a0001c0019t0003g0065
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0087t0001g0055
a0001c0093t0001g0251
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0006c0026t0001g0083
a0009c0016t0001g0084
a0009c0016t0002g0252
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0020c0094t0011g0075
a0027c0070t0001g0012
 42 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(39): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01070.hp2
HG01258.hp2
HG01346.hp1
HG01891.hp1
HG01978.hp2
HG02080.hp2
HG02109.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03942.hp1
HG04184.hp1
HG04228.hp1
NA18906.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.2684-1977T>C
c.2684-1977T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502034
chr21:45502034 T
T
 TCAGGGGC
others(767): Show 
TCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGA
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCCGAAGGACCCC
 1 a0001c0019t0003g0139
a0001c0019t0003g0139
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.2684-1970_2684-196
others(778): Show 
c.2684-1970_2684-1969insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCA
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCTCAGGAGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTG
CAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTCCACAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502034
chr21:45502040 GC
GC
 G
G
 43 a0001c0001t0001g0033
a0001c0001t0001g0127
a0001c0001t0001g0142
others(40): Show 
a0001c0001t0001g0033
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0110
a0001c0004t0001g0018
a0001c0004t0001g0087
a0001c0004t0001g0290
a0001c0005t0002g0239
a0001c0013t0002g0207
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0100t0001g0039
a0006c0026t0001g0083
a0009c0016t0001g0084
a0009c0016t0002g0252
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
 43 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(40): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG01070.hp2
HG01167.hp1
HG01258.hp2
HG01346.hp1
HG01978.hp2
HG02080.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp2
NA18969.hp1
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.2684-1969delC
c.2684-1969delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502040
chr21:45502041 C
C
 CTCCACAG
others(250): Show 
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA
GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTC
ACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCC
TCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGG
 1 a0001c0004t0016g0051
a0001c0004t0016g0051
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.2684-1970_2684-196
others(261): Show 
c.2684-1970_2684-1969insTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGG
GGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCA
AAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG
TCACCTCCCTCTGCAGAAGGACCCCCAGGGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502041
chr21:45502044 C
C
 T
T
 2 a0009c0016t0001g0084
a0012c0065t0002g0096
a0009c0016t0001g0084
a0012c0065t0002g0096
 2 HG01070.hp2
HG03942.hp1
HG01070.hp2
HG03942.hp1
 intron_variant MODIFIER c.2684-1967C>T
c.2684-1967C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502044
chr21:45502046 G
G
 A
A
 56 a0001c0001t0001g0033
a0001c0001t0001g0127
a0001c0001t0001g0142
others(53): Show 
a0001c0001t0001g0033
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0002t0012g0109
a0001c0003t0001g0081
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0003g0264
a0001c0004t0001g0018
a0001c0004t0001g0087
a0001c0004t0001g0214
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0239
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0013t0002g0207
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0100t0001g0039
a0006c0026t0001g0083
a0009c0016t0001g0084
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
 56 HG00544.hp1
HG00609.hp2
HG00621.hp2
others(53): Show 
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00733.hp2
HG00738.hp1
HG01070.hp2
HG01123.hp2
HG01167.hp1
HG01258.hp2
HG01346.hp1
HG01978.hp2
HG02080.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03239.hp1
HG03688.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.2684-1965G>A
c.2684-1965G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502046
chr21:45502046 G
G
 GCAGCCGG
others(208): Show 
GCAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTCCA
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2684-1944_2684-194
others(219): Show 
c.2684-1944_2684-1943insAGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTC
TGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAA
GGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502046
chr21:45502046 GCAGCCGG
others(36): Show 
GCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCA
 G
G
 7 a0001c0004t0001g0013
a0001c0004t0001g0255
a0001c0022t0001g0008
others(4): Show 
a0001c0004t0001g0013
a0001c0004t0001g0255
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0005c0036t0001g0292
a0019c0096t0015g0045
 7 HG00438.hp2
HG00544.hp2
HG02280.hp1
others(4): Show 
HG00438.hp2
HG00544.hp2
HG02280.hp1
HG03209.hp2
HG03471.hp2
NA18906.hp2
NA18977.hp1
 intron_variant MODIFIER c.2684-1943_2684-190
others(47): Show 
c.2684-1943_2684-1901delCGAAGGACCCCCAGGGGCTCCACAGC
CGGTCACCTCCCTCTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502046
chr21:45502047 C
C
 A
A
 3 a0001c0008t0002g0240
a0009c0016t0001g0084
a0012c0065t0002g0096
a0001c0008t0002g0240
a0009c0016t0001g0084
a0012c0065t0002g0096
 3 HG00639.hp1
HG01070.hp2
HG03942.hp1
HG00639.hp1
HG01070.hp2
HG03942.hp1
 intron_variant MODIFIER c.2684-1964C>A
c.2684-1964C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502047
chr21:45502047 C
C
 CAGCCGGT
others(36): Show 
CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA
 1 a0031c0092t0011g0190
a0031c0092t0011g0190
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.2684-1944_2684-194
others(47): Show 
c.2684-1944_2684-1943insAGAAGGACCCCCAGGGGCTTCAAAGC
CGGTCACCTCCCTCTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502047
chr21:45502062 C
C
 A
A
 6 a0002c0020t0003g0156
a0004c0099t0003g0030
a0004c0100t0001g0039
others(3): Show 
a0002c0020t0003g0156
a0004c0099t0003g0030
a0004c0100t0001g0039
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 6 HG02257.hp1
HG02809.hp1
HG02886.hp1
others(3): Show 
HG02257.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG03098.hp1
NA19043.hp1
 intron_variant MODIFIER c.2684-1949C>A
c.2684-1949C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502062
chr21:45502068 C
C
 A
A
 89 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(86): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0150
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0002t0012g0109
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0110
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0003t0001g0254
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0013t0002g0207
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0067t0001g0041
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0091t0001g0056
a0009c0016t0001g0084
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0026c0044t0001g0037
a0028c0097t0001g0036
a0031c0092t0011g0190
 89 HG00423.hp1
HG00544.hp1
HG00609.hp2
others(86): Show 
HG00423.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01891.hp1
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp2
NA18949.hp1
NA18959.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-1943C>A
c.2684-1943C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502068
chr21:45502078 C
C
 T
T
 12 a0001c0001t0001g0150
a0001c0004t0001g0087
a0001c0004t0001g0290
others(9): Show 
a0001c0001t0001g0150
a0001c0004t0001g0087
a0001c0004t0001g0290
a0001c0005t0002g0239
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0103t0001g0136
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0031c0092t0011g0190
 12 HG01167.hp1
HG01261.hp2
HG01346.hp1
others(9): Show 
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG02080.hp2
HG02273.hp2
HG02717.hp1
HG02886.hp2
HG02895.hp2
HG03239.hp1
HG04115.hp1
NA19240.hp2
 intron_variant MODIFIER c.2684-1933C>T
c.2684-1933C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502078
chr21:45502084 G
G
 GC
GC
 52 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0149
others(49): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0149
a0001c0001t0001g0192
a0001c0002t0002g0091
a0001c0002t0003g0143
a0001c0004t0001g0087
a0001c0004t0001g0290
a0001c0005t0002g0239
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0014g0210
a0001c0069t0005g0038
a0001c0080t0004g0057
a0002c0012t0004g0040
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0103t0001g0136
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 52 HG00099.hp1
HG00597.hp1
HG00642.hp1
others(49): Show 
HG00099.hp1
HG00597.hp1
HG00642.hp1
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01346.hp1
HG01891.hp2
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02257.hp1
HG02273.hp2
HG02559.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03579.hp1
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18998.hp2
NA19043.hp1
NA19060.hp2
NA19240.hp2
 intron_variant MODIFIER c.2684-1926dupC
c.2684-1926dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502084
chr21:45502084 G
G
 GCTTCAAA
others(252): Show 
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGAC
CCTCAGGGGC
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.2684-1925_2684-192
others(263): Show 
c.2684-1925_2684-1924insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502084
chr21:45502084 G
G
 GCTTCAAA
others(123): Show 
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGC
 21 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0003t0001g0193
others(18): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0003t0001g0193
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0005t0002g0224
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0194
a0001c0035t0001g0072
a0001c0035t0001g0073
a0002c0067t0001g0041
a0028c0097t0001g0036
 21 HG00423.hp1
HG01981.hp2
HG02055.hp1
others(18): Show 
HG00423.hp1
HG01981.hp2
HG02055.hp1
HG02080.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG03195.hp2
HG03225.hp2
HG03540.hp2
HG03834.hp2
HG03927.hp1
NA18959.hp2
NA19002.hp2
NA19005.hp2
NA19057.hp2
NA19060.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.2684-1925_2684-192
others(134): Show 
c.2684-1925_2684-1924insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGG
GCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502084
chr21:45502084 G
G
 GCTTCAAA
others(209): Show 
GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTTCAAAGCCGGT
CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC
CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA
GAAGGACCCTCAGGGGC
 1 a0001c0004t0001g0022
a0001c0004t0001g0022
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2684-1925_2684-192
others(220): Show 
c.2684-1925_2684-1924insTCAAAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC
CTCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC
AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502084
chr21:45502089 A
A
 ACAGCCGG
others(80): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 2 a0001c0003t0001g0110
a0001c0003t0001g0287
a0001c0003t0001g0110
a0001c0003t0001g0287
 2 HG01258.hp2
HG01346.hp2
HG01258.hp2
HG01346.hp2
 intron_variant MODIFIER c.2684-1891_2684-189
others(91): Show 
c.2684-1891_2684-1890insCCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTG
CAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502089
chr21:45502089 A
A
 ACAGCCGG
others(642): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCTCCACAGCTGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTC
CACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGC
CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCAC
CTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCT
CTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAG
AAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACC
CCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG
GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 1 a0001c0093t0001g0251
a0001c0093t0001g0251
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.2684-1891_2684-189
others(653): Show 
c.2684-1891_2684-1890insCCAGGGGCTTCAAAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCC
ACAGCTGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACC
TCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCT
GCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAA
GGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGGACCC
CCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG
CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACA
GCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCCGGT
CACCTCCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502089
chr21:45502089 A
A
 ACAGCCGG
others(37): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCG
 3 a0001c0001t0001g0127
a0001c0053t0001g0244
a0001c0087t0001g0055
a0001c0001t0001g0127
a0001c0053t0001g0244
a0001c0087t0001g0055
 3 HG00609.hp2
HG03041.hp2
NA19043.hp2
HG00609.hp2
HG03041.hp2
NA19043.hp2
 intron_variant MODIFIER c.2684-1891_2684-189
others(48): Show 
c.2684-1891_2684-1890insTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502089
chr21:45502089 A
A
 ACAGCCGG
others(81): Show 
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCTCCGCAGCT
GGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCCTCCG
 1 a0001c0055t0003g0152
a0001c0055t0003g0152
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.2684-1891_2684-189
others(92): Show 
c.2684-1891_2684-1890insTCAGGGGCCTCCGCAGCTGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCCTCCGCAGCCGGTCACCTCCCTCT
GCAGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502089
chr21:45502089 A
A
 ACAGCCGG
others(37): Show 
ACAGCCGGTCACCTCCCTCTGCCGAAGGACCCTCAGGGGCCTCCG
 4 a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
others(1): Show 
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
 4 HG02257.hp2
HG02559.hp1
HG02630.hp1
others(1): Show 
HG02257.hp2
HG02559.hp1
HG02630.hp1
HG02895.hp1
 intron_variant MODIFIER c.2684-1901_2684-190
others(48): Show 
c.2684-1901_2684-1900insCGAAGGACCCTCAGGGGCCTCCGCAG
CCGGTCACCTCCCTCTGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502089
chr21:45502089 A
A
 G
G
 90 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(87): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0149
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0091
a0001c0002t0003g0143
a0001c0003t0001g0193
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0002g0122
a0001c0013t0002g0206
a0001c0013t0014g0210
a0001c0017t0003g0284
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0069t0005g0038
a0001c0080t0004g0057
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0103t0001g0136
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0029c0071t0002g0134
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 90 HG00099.hp1
HG00423.hp1
HG00597.hp1
others(87): Show 
HG00099.hp1
HG00423.hp1
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01346.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp2
NA18964.hp1
NA18966.hp2
NA18998.hp2
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19074.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2684-1922A>G
c.2684-1922A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502089
chr21:45502095 G
G
 A
A
 1 a0001c0004t0001g0225
a0001c0004t0001g0225
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.2684-1916G>A
c.2684-1916G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502095
chr21:45502111 A
A
 AGAAGGAC
others(37): Show 
AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC
 1 a0001c0013t0002g0207
a0001c0013t0002g0207
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.2684-1891_2684-189
others(48): Show 
c.2684-1891_2684-1890insTCAGGGGCCTCCGCAGCCGGTCACCT
CCCTCTGCCGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502111
chr21:45502111 A
A
 AGAAGGAC
others(209): Show 
AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCCTCCGCAGCC
GGTCACCTCCCTCTGCC
 1 a0001c0001t0001g0142
a0001c0001t0001g0142
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2684-1891_2684-189
others(220): Show 
c.2684-1891_2684-1890insTCAGGGGCTCCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502111
chr21:45502111 A
A
 AGAAGGAC
others(424): Show 
AGAAGGACCCTCAGGGGCTGCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCG
GTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGG
ACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCA
GGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC
 1 a0001c0002t0012g0109
a0001c0002t0012g0109
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2684-1891_2684-189
others(435): Show 
c.2684-1891_2684-1890insTCAGGGGCTGCACAGCCGGTCACCTC
CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC
AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA
CCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG
GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC
ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCG
GTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCT
CCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTG
CAGAAGGACCCCCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAG
GACCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45502111
chr21:45502111 A
A
 C
C
 7 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0017t0003g0284
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0017t0003g0284
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0054t0002g0201
a0001c0098t0001g0007
 7 HG01243.hp1
HG02258.hp1
HG02451.hp2
others(4): Show 
HG01243.hp1
HG02258.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02723.hp2
HG03098.hp2
 intron_variant MODIFIER c.2684-1900A>C
c.2684-1900A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502111
chr21:45502145 A
A
 G
G
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2684-1866A>G
c.2684-1866A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502145
chr21:45502188 G
G
 A
A
 98 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(95): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 98 HG00099.hp2
HG00140.hp2
HG00423.hp1
others(95): Show 
HG00099.hp2
HG00140.hp2
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01943.hp1
HG01981.hp2
HG01993.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-1823G>A
c.2684-1823G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502188
chr21:45502194 T
T
 A
A
 1 a0001c0002t0002g0283
a0001c0002t0002g0283
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.2684-1817T>A
c.2684-1817T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502194
chr21:45502232 T
T
 A
A
 1 a0001c0005t0002g0217
a0001c0005t0002g0217
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.2684-1779T>A
c.2684-1779T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502232
chr21:45502522 A
A
 G
G
 147 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(144): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0036c0048t0004g0184
a0037c0049t0004g0183
 147 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(144): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp1
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-1489A>G
c.2684-1489A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502522
chr21:45502538 T
T
 A
A
 1 a0001c0003t0001g0181
a0001c0003t0001g0181
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2684-1473T>A
c.2684-1473T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502538
chr21:45502578 C
C
 A
A
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2684-1433C>A
c.2684-1433C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502578
chr21:45502595 C
C
 T
T
 1 a0001c0004t0001g0112
a0001c0004t0001g0112
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2684-1416C>T
c.2684-1416C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502595
chr21:45502607 A
A
 C
C
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2684-1404A>C
c.2684-1404A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502607
chr21:45502674 A
A
 C
C
 16 a0001c0069t0005g0038
a0002c0020t0001g0010
a0002c0020t0001g0011
others(13): Show 
a0001c0069t0005g0038
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0004c0099t0003g0030
a0004c0100t0001g0039
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 16 HG01074.hp2
HG01081.hp1
HG02109.hp2
others(13): Show 
HG01074.hp2
HG01081.hp1
HG02109.hp2
HG02257.hp1
HG02630.hp2
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
NA18906.hp1
NA19043.hp1
 intron_variant MODIFIER c.2684-1337A>C
c.2684-1337A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502674
chr21:45502785 G
G
 A
A
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2684-1226G>A
c.2684-1226G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502785
chr21:45502819 C
C
 T
T
 1 a0001c0005t0002g0232
a0001c0005t0002g0232
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.2684-1192C>T
c.2684-1192C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502819
chr21:45502836 C
C
 T
T
 1 a0001c0004t0001g0022
a0001c0004t0001g0022
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2684-1175C>T
c.2684-1175C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502836
chr21:45502845 C
C
 G
G
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2684-1166C>G
c.2684-1166C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45502845
chr21:45503013 T
T
 C
C
 1 a0001c0002t0002g0117
a0001c0002t0002g0117
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.2684-998T>C
c.2684-998T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503013
chr21:45503020 G
G
 A
A
 126 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(123): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
 126 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(123): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA19002.hp2
NA19005.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-991G>A
c.2684-991G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503020
chr21:45503037 G
G
 A
A
 15 a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
others(12): Show 
a0001c0001t0001g0266
a0001c0002t0002g0140
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0006c0028t0003g0230
a0009c0016t0002g0252
a0012c0065t0002g0096
a0012c0088t0002g0006
a0025c0050t0002g0108
 15 HG00280.hp1
HG00733.hp1
HG00738.hp2
others(12): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp2
HG01192.hp1
HG01257.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG03239.hp2
HG03654.hp1
HG03942.hp1
HG04184.hp1
NA18522.hp1
NA20300.hp1
 intron_variant MODIFIER c.2684-974G>A
c.2684-974G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503037
chr21:45503075 T
T
 G
G
 7 a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0041t0001g0155
others(4): Show 
a0001c0001t0001g0033
a0001c0001t0001g0192
a0001c0041t0001g0155
a0001c0074t0004g0200
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
 7 HG02145.hp1
HG02280.hp1
HG02559.hp2
others(4): Show 
HG02145.hp1
HG02280.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp2
HG03540.hp1
NA21309.hp1
 intron_variant MODIFIER c.2684-936T>G
c.2684-936T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503075
chr21:45503198 G
G
 C
C
 2 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0032t0001g0147
a0001c0032t0001g0162
 2 NA18977.hp2
NA19070.hp1
NA18977.hp2
NA19070.hp1
 intron_variant MODIFIER c.2684-813G>C
c.2684-813G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503198
chr21:45503216 A
A
 G
G
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.2684-795A>G
c.2684-795A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503216
chr21:45503256 C
C
 T
T
 1 a0032c0052t0002g0077
a0032c0052t0002g0077
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.2684-755C>T
c.2684-755C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503256
chr21:45503276 GATGGT
GATGGT
 G
G
 124 a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
others(121): Show 
a0001c0001t0001g0031
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0001g0142
a0001c0001t0001g0175
a0001c0001t0001g0191
a0001c0001t0001g0266
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0007t0002g0220
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0032c0052t0002g0077
a0035c0078t0001g0115
 124 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(121): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00423.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG01070.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03688.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp2
HG04204.hp2
HG06807.hp1
NA18612.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18961.hp2
NA18966.hp2
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18990.hp2
NA18998.hp2
NA19002.hp2
NA19005.hp2
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2684-732_2684-728d
others(7): Show 
c.2684-732_2684-728delGGTAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45503276
chr21:45503351 T
T
 C
C
 1 a0001c0001t0001g0273
a0001c0001t0001g0273
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.2684-660T>C
c.2684-660T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503351
chr21:45503432 T
T
 C
C
 1 a0026c0044t0001g0037
a0026c0044t0001g0037
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2684-579T>C
c.2684-579T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503432
chr21:45503578 C
C
 A
A
 82 a0001c0001t0001g0025
a0001c0001t0001g0125
a0001c0001t0001g0175
others(79): Show 
a0001c0001t0001g0025
a0001c0001t0001g0125
a0001c0001t0001g0175
a0001c0002t0002g0283
a0001c0002t0012g0109
a0001c0003t0001g0043
a0001c0003t0001g0110
a0001c0003t0001g0193
a0001c0003t0001g0287
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0001g0064
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0002g0224
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0005t0006g0218
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0194
a0001c0008t0002g0240
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0087t0001g0055
a0001c0093t0001g0251
a0002c0012t0004g0058
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0103t0001g0136
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0012c0065t0002g0096
a0013c0051t0001g0195
a0021c0086t0002g0176
a0027c0070t0001g0012
a0036c0048t0004g0184
a0037c0049t0004g0183
 82 HG00280.hp1
HG00423.hp1
HG00438.hp2
others(79): Show 
HG00280.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00733.hp1
HG01074.hp2
HG01081.hp1
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02055.hp1
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp1
HG03579.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp2
NA18953.hp1
NA18959.hp2
NA18966.hp2
NA18977.hp1
NA18977.hp2
NA19002.hp2
NA19005.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.2684-433C>A
c.2684-433C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503578
chr21:45503584 A
A
 G
G
 1 a0001c0001t0001g0243
a0001c0001t0001g0243
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.2684-427A>G
c.2684-427A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503584
chr21:45503633 T
T
 A
A
 1 a0001c0082t0008g0053
a0001c0082t0008g0053
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2684-378T>A
c.2684-378T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503633
chr21:45503634 T
T
 G
G
 1 a0012c0065t0002g0096
a0012c0065t0002g0096
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2684-377T>G
c.2684-377T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503634
chr21:45503654 G
G
 A
A
 1 a0001c0082t0008g0053
a0001c0082t0008g0053
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2684-357G>A
c.2684-357G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503654
chr21:45503665 T
T
 C
C
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.2684-346T>C
c.2684-346T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503665
chr21:45503666 T
T
 C
C
 1 a0001c0008t0002g0240
a0001c0008t0002g0240
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.2684-345T>C
c.2684-345T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503666
chr21:45503693 G
G
 A
A
 1 a0001c0005t0002g0158
a0001c0005t0002g0158
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.2684-318G>A
c.2684-318G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503693
chr21:45503710 A
A
 G
G
 2 a0001c0002t0002g0107
a0004c0099t0003g0030
a0001c0002t0002g0107
a0004c0099t0003g0030
 2 HG00735.hp1
HG02922.hp1
HG00735.hp1
HG02922.hp1
 intron_variant MODIFIER c.2684-301A>G
c.2684-301A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503710
chr21:45503738 T
T
 A
A
 11 a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0236
others(8): Show 
a0001c0001t0004g0223
a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0003g0205
 11 HG00140.hp1
HG00280.hp1
HG01192.hp1
others(8): Show 
HG00140.hp1
HG00280.hp1
HG01192.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG03704.hp2
NA18999.hp2
NA20300.hp1
 intron_variant MODIFIER c.2684-273T>A
c.2684-273T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503738
chr21:45503754 C
C
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2684-257C>T
c.2684-257C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503754
chr21:45503755 A
A
 G
G
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2684-256A>G
c.2684-256A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503755
chr21:45503763 G
G
 A
A
 1 a0003c0015t0001g0202
a0003c0015t0001g0202
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.2684-248G>A
c.2684-248G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503763
chr21:45503788 ATAAATT
ATAAATT
 A
A
 4 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0192
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0192
a0001c0054t0002g0201
 4 HG01243.hp1
HG02559.hp2
HG03098.hp2
others(1): Show 
HG01243.hp1
HG02559.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.2684-218_2684-213d
others(8): Show 
c.2684-218_2684-213delTTTAAA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 INFO_REALIGN_3_PRIME chr21 45503788
chr21:45503802 T
T
 A
A
 3 a0001c0002t0002g0283
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0002t0002g0283
a0001c0033t0002g0100
a0001c0033t0002g0169
 3 NA18952.hp2
NA18954.hp1
NA19074.hp2
NA18952.hp2
NA18954.hp1
NA19074.hp2
 intron_variant MODIFIER c.2684-209T>A
c.2684-209T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503802
chr21:45503900 C
C
 T
T
 1 a0001c0062t0002g0097
a0001c0062t0002g0097
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.2684-111C>T
c.2684-111C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503900
chr21:45503960 G
G
 A
A
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.2684-51G>A
c.2684-51G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503960
chr21:45503966 G
G
 A
A
 1 a0003c0047t0001g0069
a0003c0047t0001g0069
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.2684-45G>A
c.2684-45G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503966
chr21:45503992 G
G
 A
A
 6 a0001c0001t0001g0234
a0001c0002t0002g0133
a0001c0035t0001g0072
others(3): Show 
a0001c0001t0001g0234
a0001c0002t0002g0133
a0001c0035t0001g0072
a0001c0035t0001g0073
a0034c0075t0001g0116
a0035c0078t0001g0115
 6 HG02040.hp2
HG02132.hp1
HG02165.hp1
others(3): Show 
HG02040.hp2
HG02132.hp1
HG02165.hp1
NA18998.hp2
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.2684-19G>A
c.2684-19G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 32/41 chr21 45503992
chr21:45504139 G
G
 A
A
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.2727+85G>A
c.2727+85G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504139
chr21:45504235 T
T
 C
C
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.2727+181T>C
c.2727+181T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504235
chr21:45504245 C
C
 T
T
 2 a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0063t0001g0144
a0001c0079t0001g0042
 2 HG03471.hp1
HG06807.hp1
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.2728-171C>T
c.2728-171C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504245
chr21:45504295 C
C
 A
A
 105 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0103
others(102): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0142
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0246
a0001c0001t0001g0250
a0001c0001t0001g0266
a0001c0001t0004g0223
a0001c0002t0002g0133
a0001c0002t0002g0283
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0225
a0001c0004t0016g0051
a0001c0007t0002g0078
a0001c0007t0002g0194
a0001c0017t0002g0179
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0054t0002g0201
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0091t0001g0056
a0006c0028t0003g0230
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0017c0043t0002g0015
a0018c0095t0001g0146
a0022c0068t0010g0004
a0024c0066t0010g0066
a0025c0050t0002g0108
a0028c0097t0001g0036
a0030c0056t0001g0044
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 105 HG00099.hp2
HG00140.hp2
HG00621.hp1
others(102): Show 
HG00099.hp2
HG00140.hp2
HG00621.hp1
HG00733.hp1
HG00735.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01515.hp2
HG01993.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18949.hp1
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18959.hp1
NA18969.hp1
NA18969.hp2
NA18995.hp2
NA18998.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19060.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp2
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2728-121C>A
c.2728-121C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504295
chr21:45504305 G
G
 T
T
 1 a0025c0050t0002g0108
a0025c0050t0002g0108
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.2728-111G>T
c.2728-111G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504305
chr21:45504315 C
C
 T
T
 1 a0005c0060t0001g0063
a0005c0060t0001g0063
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2728-101C>T
c.2728-101C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504315
chr21:45504408 G
G
 A
A
 3 a0012c0065t0002g0096
a0023c0085t0002g0106
a0025c0050t0002g0108
a0012c0065t0002g0096
a0023c0085t0002g0106
a0025c0050t0002g0108
 3 HG00639.hp2
HG03654.hp1
HG03942.hp1
HG00639.hp2
HG03654.hp1
HG03942.hp1
 splice_region_variant&intron_variant LOW c.2728-8G>A
c.2728-8G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 33/41 chr21 45504408
chr21:45504647 G
G
 A
A
 2 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0149
a0001c0001t0001g0150
 2 HG01261.hp2
HG03130.hp2
HG01261.hp2
HG03130.hp2
 intron_variant MODIFIER c.2868+91G>A
c.2868+91G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504647
chr21:45504647 G
G
 C
C
 16 a0001c0001t0001g0191
a0001c0017t0003g0284
a0001c0054t0002g0201
others(13): Show 
a0001c0001t0001g0191
a0001c0017t0003g0284
a0001c0054t0002g0201
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0002c0021t0002g0186
a0004c0100t0001g0039
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0012c0065t0002g0096
a0023c0085t0002g0106
a0031c0092t0011g0190
 16 HG00639.hp2
HG01243.hp1
HG01496.hp1
others(13): Show 
HG00639.hp2
HG01243.hp1
HG01496.hp1
HG02109.hp2
HG02615.hp1
HG02630.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.2868+91G>C
c.2868+91G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504647
chr21:45504696 C
C
 A
A
 1 a0007c0031t0002g0123
a0007c0031t0002g0123
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.2868+140C>A
c.2868+140C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504696
chr21:45504709 C
C
 T
T
 2 a0034c0075t0001g0116
a0035c0078t0001g0115
a0034c0075t0001g0116
a0035c0078t0001g0115
 2 HG02132.hp1
NA18998.hp2
HG02132.hp1
NA18998.hp2
 intron_variant MODIFIER c.2868+153C>T
c.2868+153C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504709
chr21:45504713 G
G
 C
C
 4 a0002c0012t0004g0058
a0002c0103t0001g0136
a0027c0070t0001g0012
others(1): Show 
a0002c0012t0004g0058
a0002c0103t0001g0136
a0027c0070t0001g0012
a0031c0092t0011g0190
 4 HG01167.hp1
HG01496.hp1
HG02257.hp1
others(1): Show 
HG01167.hp1
HG01496.hp1
HG02257.hp1
HG03239.hp1
 intron_variant MODIFIER c.2868+157G>C
c.2868+157G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504713
chr21:45504750 C
C
 A
A
 1 a0001c0011t0001g0017
a0001c0011t0001g0017
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.2868+194C>A
c.2868+194C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504750
chr21:45504768 C
C
 T
T
 2 a0013c0051t0001g0195
a0014c0039t0009g0198
a0013c0051t0001g0195
a0014c0039t0009g0198
 2 HG02257.hp2
HG02630.hp1
HG02257.hp2
HG02630.hp1
 intron_variant MODIFIER c.2868+212C>T
c.2868+212C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504768
chr21:45504871 C
C
 T
T
 113 a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
others(110): Show 
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0002t0002g0091
a0001c0002t0002g0137
a0001c0002t0006g0233
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0290
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0208
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0061t0001g0257
a0001c0064t0001g0061
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0058t0001g0165
a0007c0034t0001g0141
a0007c0034t0001g0282
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 113 HG00099.hp2
HG00438.hp2
HG00544.hp2
others(110): Show 
HG00099.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03486.hp2
HG03579.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19012.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19070.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2869-263C>T
c.2869-263C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504871
chr21:45504891 C
C
 G
G
 153 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(150): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0080
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 153 HG00099.hp2
HG00438.hp2
HG00544.hp2
others(150): Show 
HG00099.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01928.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19070.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2869-243C>G
c.2869-243C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504891
chr21:45504919 A
A
 AGGTCTCT
AGGTCTCT
 167 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
others(164): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0277
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0002t0001g0080
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0111
a0001c0002t0002g0137
a0001c0002t0003g0143
a0001c0002t0006g0233
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0007t0002g0078
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0067t0001g0041
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0045t0006g0242
a0003c0047t0001g0069
a0004c0057t0002g0035
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 167 HG00099.hp2
HG00438.hp2
HG00544.hp1
others(164): Show 
HG00099.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.2869-213_2869-207d
others(9): Show 
c.2869-213_2869-207dupGTCTCTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 INFO_REALIGN_3_PRIME chr21 45504919
chr21:45504941 C
C
 T
T
 3 a0002c0021t0002g0001
a0002c0021t0002g0148
a0011c0104t0002g0003
a0002c0021t0002g0001
a0002c0021t0002g0148
a0011c0104t0002g0003
 3 HG02717.hp2
HG02965.hp1
HG03041.hp1
HG02717.hp2
HG02965.hp1
HG03041.hp1
 intron_variant MODIFIER c.2869-193C>T
c.2869-193C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45504941
chr21:45505017 G
G
 A
A
 73 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
others(70): Show 
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0007t0002g0078
a0001c0008t0002g0260
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0061t0001g0257
a0001c0064t0001g0061
a0001c0081t0003g0154
a0001c0082t0008g0053
a0002c0020t0001g0010
a0002c0020t0001g0011
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0151
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0009c0016t0001g0084
a0009c0016t0001g0209
a0032c0052t0002g0077
a0034c0075t0001g0116
a0035c0078t0001g0115
 73 HG00099.hp2
HG00140.hp2
HG00558.hp1
others(70): Show 
HG00099.hp2
HG00140.hp2
HG00558.hp1
HG00621.hp1
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp1
HG02004.hp1
HG02071.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02559.hp2
HG02602.hp1
HG02818.hp1
HG03098.hp2
HG03225.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG04184.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18944.hp1
NA18944.hp2
NA18949.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18983.hp2
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19070.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp2
NA20905.hp2
 intron_variant MODIFIER c.2869-117G>A
c.2869-117G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45505017
chr21:45505063 C
C
 T
T
 31 a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0004t0001g0026
others(28): Show 
a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0004t0001g0026
a0001c0005t0002g0239
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0284
a0001c0074t0004g0200
a0002c0020t0003g0156
a0003c0046t0001g0002
a0004c0100t0001g0039
a0006c0026t0003g0219
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0014c0039t0009g0197
a0014c0039t0009g0198
a0021c0086t0002g0176
a0026c0044t0001g0037
a0031c0092t0011g0190
a0033c0077t0003g0098
 31 HG00140.hp1
HG00642.hp1
HG00733.hp1
others(28): Show 
HG00140.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01496.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG02273.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03453.hp1
HG03540.hp1
HG03579.hp1
HG04115.hp1
NA18522.hp2
NA18747.hp2
NA18999.hp2
NA19043.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2869-71C>T
c.2869-71C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45505063
chr21:45505078 C
C
 T
T
 2 a0014c0039t0009g0197
a0014c0039t0009g0198
a0014c0039t0009g0197
a0014c0039t0009g0198
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 intron_variant MODIFIER c.2869-56C>T
c.2869-56C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45505078
chr21:45505079 G
G
 A
A
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2869-55G>A
c.2869-55G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 34/41 chr21 45505079
chr21:45505303 G
G
 A
A
 2 a0001c0006t0003g0215
a0001c0027t0001g0019
a0001c0006t0003g0215
a0001c0027t0001g0019
 2 HG01192.hp1
HG02258.hp1
HG01192.hp1
HG02258.hp1
 intron_variant MODIFIER c.3013+25G>A
c.3013+25G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/41 chr21 45505303
chr21:45505333 T
T
 G
G
 1 a0001c0081t0003g0154
a0001c0081t0003g0154
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.3014-25T>G
c.3014-25T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/41 chr21 45505333
chr21:45505339 C
C
 T
T
 1 a0012c0088t0002g0006
a0012c0088t0002g0006
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3014-19C>T
c.3014-19C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 35/41 chr21 45505339
chr21:45505448 C
C
 T
T
 1 a0001c0089t0001g0119
a0001c0089t0001g0119
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.3087+17C>T
c.3087+17C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/41 chr21 45505448
chr21:45505502 A
A
 G
G
 102 a0001c0001t0001g0099
a0001c0001t0001g0121
a0001c0001t0001g0241
others(99): Show 
a0001c0001t0001g0099
a0001c0001t0001g0121
a0001c0001t0001g0241
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0002g0060
a0001c0002t0002g0088
a0001c0002t0002g0094
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0238
a0001c0002t0003g0143
a0001c0003t0001g0110
a0001c0003t0001g0153
a0001c0003t0001g0221
a0001c0003t0001g0287
a0001c0004t0001g0225
a0001c0004t0001g0274
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0239
a0001c0005t0002g0280
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0185
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0013t0014g0210
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0032t0001g0162
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0054t0002g0201
a0001c0055t0003g0152
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0090t0002g0089
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0003g0156
a0002c0021t0002g0186
a0002c0083t0001g0237
a0002c0084t0002g0212
a0002c0103t0001g0136
a0003c0009t0001g0167
a0003c0010t0002g0172
a0003c0046t0001g0002
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0004c0100t0001g0039
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0072t0002g0082
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0209
a0012c0088t0002g0006
a0013c0051t0001g0195
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0025c0050t0002g0108
a0026c0044t0001g0037
a0031c0092t0011g0190
a0033c0077t0003g0098
a0036c0048t0004g0184
a0037c0049t0004g0183
 102 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(99): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01070.hp1
HG01074.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01496.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18953.hp2
NA18964.hp1
NA18966.hp1
NA18995.hp1
NA18998.hp1
NA19005.hp1
NA19012.hp1
NA19043.hp1
NA19064.hp2
NA19070.hp1
NA20129.hp1
NA20300.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3087+71A>G
c.3087+71A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/41 chr21 45505502
chr21:45505511 C
C
 A
A
 153 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(150): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0067t0001g0041
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0010t0002g0172
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0011c0104t0002g0003
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0034c0075t0001g0116
a0035c0078t0001g0115
 153 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(150): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01243.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3087+80C>A
c.3087+80C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/41 chr21 45505511
chr21:45505572 G
G
 A
A
 2 a0014c0039t0009g0197
a0014c0039t0009g0198
a0014c0039t0009g0197
a0014c0039t0009g0198
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 intron_variant MODIFIER c.3087+141G>A
c.3087+141G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/41 chr21 45505572
chr21:45505671 C
C
 A
A
 180 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(177): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0002g0238
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 180 HG00099.hp2
HG00280.hp1
HG00408.hp1
others(177): Show 
HG00099.hp2
HG00280.hp1
HG00408.hp1
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3088-167C>A
c.3088-167C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/41 chr21 45505671
chr21:45505789 C
C
 CCCCCGCC
others(2): Show 
CCCCCGCCCT
 9 a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
others(6): Show 
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
 9 HG00280.hp1
HG00733.hp1
HG01192.hp1
others(6): Show 
HG00280.hp1
HG00733.hp1
HG01192.hp1
HG01361.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
NA20300.hp1
 intron_variant MODIFIER c.3088-41_3088-33dup
others(9): Show 
c.3088-41_3088-33dupCTCCCCGCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 36/41 INFO_REALIGN_3_PRIME chr21 45505789
chr21:45505980 G
G
 A
A
 1 a0001c0001t0001g0253
a0001c0001t0001g0253
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.3216+14G>A
c.3216+14G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45505980
chr21:45506053 C
C
 T
T
 6 a0001c0003t0001g0193
a0001c0004t0001g0018
a0001c0004t0001g0026
others(3): Show 
a0001c0003t0001g0193
a0001c0004t0001g0018
a0001c0004t0001g0026
a0001c0004t0016g0051
a0001c0007t0002g0194
a0001c0087t0001g0055
 6 HG02055.hp1
HG02486.hp1
HG02615.hp2
others(3): Show 
HG02055.hp1
HG02486.hp1
HG02615.hp2
HG03041.hp2
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.3216+87C>T
c.3216+87C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506053
chr21:45506054 G
G
 A
A
 2 a0012c0065t0002g0096
a0023c0085t0002g0106
a0012c0065t0002g0096
a0023c0085t0002g0106
 2 HG00639.hp2
HG03942.hp1
HG00639.hp2
HG03942.hp1
 intron_variant MODIFIER c.3216+88G>A
c.3216+88G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506054
chr21:45506088 C
C
 G
G
 29 a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
others(26): Show 
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0003c0046t0001g0002
a0004c0099t0003g0030
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0015c0029t0003g0226
a0015c0029t0003g0227
a0026c0044t0001g0037
a0033c0077t0003g0098
 29 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(26): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03239.hp2
NA18522.hp2
NA18747.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3216+122C>G
c.3216+122C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506088
chr21:45506130 T
T
 C
C
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3216+164T>C
c.3216+164T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506130
chr21:45506140 T
T
 C
C
 147 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(144): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 147 HG00099.hp2
HG00423.hp1
HG00438.hp2
others(144): Show 
HG00099.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01243.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3216+174T>C
c.3216+174T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506140
chr21:45506179 G
G
 A
A
 26 a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
others(23): Show 
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0003c0046t0001g0002
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0026c0044t0001g0037
a0033c0077t0003g0098
 26 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(23): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03239.hp2
NA18522.hp2
NA18747.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3216+213G>A
c.3216+213G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506179
chr21:45506189 A
A
 G
G
 4 a0001c0002t0002g0283
a0001c0033t0002g0100
a0001c0033t0002g0169
others(1): Show 
a0001c0002t0002g0283
a0001c0033t0002g0100
a0001c0033t0002g0169
a0017c0043t0002g0015
 4 NA18952.hp2
NA18954.hp1
NA19074.hp2
others(1): Show 
NA18952.hp2
NA18954.hp1
NA19074.hp2
NA19091.hp1
 intron_variant MODIFIER c.3216+223A>G
c.3216+223A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506189
chr21:45506230 C
C
 T
T
 1 a0012c0065t0002g0096
a0012c0065t0002g0096
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.3216+264C>T
c.3216+264C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506230
chr21:45506308 CA
CA
 C
C
 4 a0001c0001t0001g0234
a0001c0003t0001g0101
a0001c0004t0001g0032
others(1): Show 
a0001c0001t0001g0234
a0001c0003t0001g0101
a0001c0004t0001g0032
a0001c0004t0001g0222
 4 HG02071.hp2
HG02165.hp1
NA18961.hp2
others(1): Show 
HG02071.hp2
HG02165.hp1
NA18961.hp2
NA19060.hp1
 intron_variant MODIFIER c.3216+343delA
c.3216+343delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506308
chr21:45506310 G
G
 C
C
 4 a0001c0001t0001g0234
a0001c0003t0001g0101
a0001c0004t0001g0032
others(1): Show 
a0001c0001t0001g0234
a0001c0003t0001g0101
a0001c0004t0001g0032
a0001c0004t0001g0222
 4 HG02071.hp2
HG02165.hp1
NA18961.hp2
others(1): Show 
HG02071.hp2
HG02165.hp1
NA18961.hp2
NA19060.hp1
 intron_variant MODIFIER c.3216+344G>C
c.3216+344G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506310
chr21:45506311 G
G
 C
C
 4 a0001c0001t0001g0234
a0001c0003t0001g0101
a0001c0004t0001g0032
others(1): Show 
a0001c0001t0001g0234
a0001c0003t0001g0101
a0001c0004t0001g0032
a0001c0004t0001g0222
 4 HG02071.hp2
HG02165.hp1
NA18961.hp2
others(1): Show 
HG02071.hp2
HG02165.hp1
NA18961.hp2
NA19060.hp1
 intron_variant MODIFIER c.3216+345G>C
c.3216+345G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506311
chr21:45506369 G
G
 T
T
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3216+403G>T
c.3216+403G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506369
chr21:45506383 C
C
 T
T
 138 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(135): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0002g0269
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0007t0002g0194
a0001c0008t0002g0240
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0021t0002g0001
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 138 HG00423.hp1
HG00438.hp2
HG00544.hp2
others(135): Show 
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00735.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01243.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01928.hp2
HG01943.hp1
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3216+417C>T
c.3216+417C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506383
chr21:45506386 G
G
 A
A
 6 a0001c0001t0001g0099
a0001c0001t0001g0121
a0001c0001t0001g0241
others(3): Show 
a0001c0001t0001g0099
a0001c0001t0001g0121
a0001c0001t0001g0241
a0001c0003t0001g0110
a0001c0003t0001g0287
a0003c0009t0001g0167
 6 HG01074.hp1
HG01258.hp2
HG01261.hp1
others(3): Show 
HG01074.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG02602.hp1
NA20905.hp2
 intron_variant MODIFIER c.3216+420G>A
c.3216+420G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506386
chr21:45506542 G
G
 A
A
 2 a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0032t0001g0147
a0001c0032t0001g0162
 2 NA18977.hp2
NA19070.hp1
NA18977.hp2
NA19070.hp1
 intron_variant MODIFIER c.3216+576G>A
c.3216+576G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506542
chr21:45506547 G
G
 C
C
 2 a0001c0074t0004g0200
a0031c0092t0011g0190
a0001c0074t0004g0200
a0031c0092t0011g0190
 2 HG01496.hp1
HG03540.hp1
HG01496.hp1
HG03540.hp1
 intron_variant MODIFIER c.3216+581G>C
c.3216+581G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506547
chr21:45506560 G
G
 A
A
 1 a0003c0009t0001g0167
a0003c0009t0001g0167
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.3216+594G>A
c.3216+594G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506560
chr21:45506581 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3216+615C>T
c.3216+615C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506581
chr21:45506587 G
G
 C
C
 9 a0001c0038t0004g0028
a0001c0038t0004g0029
a0002c0012t0004g0040
others(6): Show 
a0001c0038t0004g0028
a0001c0038t0004g0029
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0103t0001g0136
a0036c0048t0004g0184
a0037c0049t0004g0183
 9 HG01167.hp1
HG02572.hp1
HG02622.hp1
others(6): Show 
HG01167.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG03239.hp1
HG03486.hp1
 intron_variant MODIFIER c.3216+621G>C
c.3216+621G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506587
chr21:45506635 G
G
 A
A
 23 a0001c0003t0001g0081
a0001c0006t0003g0079
a0001c0006t0003g0177
others(20): Show 
a0001c0003t0001g0081
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0015c0029t0003g0226
a0015c0029t0003g0227
a0033c0077t0003g0098
 23 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(20): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG01123.hp2
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp2
HG02723.hp1
HG03017.hp2
HG03239.hp2
NA18747.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3216+669G>A
c.3216+669G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506635
chr21:45506637 C
C
 T
T
 41 a0001c0002t0003g0143
a0001c0003t0001g0081
a0001c0005t0003g0211
others(38): Show 
a0001c0002t0003g0143
a0001c0003t0001g0081
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0055t0003g0152
a0001c0073t0003g0034
a0001c0074t0004g0200
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0103t0001g0136
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0012c0065t0002g0096
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0023c0085t0002g0106
a0031c0092t0011g0190
a0033c0077t0003g0098
a0036c0048t0004g0184
a0037c0049t0004g0183
 41 HG00280.hp1
HG00639.hp2
HG00642.hp1
others(38): Show 
HG00280.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03540.hp1
HG03942.hp1
NA18747.hp2
NA18953.hp2
NA19012.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3216+671C>T
c.3216+671C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506637
chr21:45506653 A
A
 G
G
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3216+687A>G
c.3216+687A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506653
chr21:45506730 ACCCACCT
others(37): Show 
ACCCACCTTCCTTCTAGAGCCCTCCCACCTTCCCTCTGGAACCCT
 A
A
 5 a0001c0001t0001g0203
a0001c0003t0001g0221
a0001c0004t0001g0225
others(2): Show 
a0001c0001t0001g0203
a0001c0003t0001g0221
a0001c0004t0001g0225
a0009c0016t0001g0084
a0009c0016t0001g0209
 5 HG00099.hp2
HG01070.hp2
HG01123.hp1
others(2): Show 
HG00099.hp2
HG01070.hp2
HG01123.hp1
HG01515.hp2
HG03831.hp2
 intron_variant MODIFIER c.3216+775_3217-777d
others(46): Show 
c.3216+775_3217-777delTTCTAGAGCCCTCCCACCTTCCCTCTGG
AACCCTCCCACCTTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45506730
chr21:45506739 C
C
 T
T
 1 a0001c0007t0002g0208
a0001c0007t0002g0208
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.3216+773C>T
c.3216+773C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506739
chr21:45506745 AGAGCCCT
others(37): Show 
AGAGCCCTCCCACCTTCCCTCTGGAACCCTCCCACCTTCCCTCTG
 A
A
 147 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(144): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 147 HG00280.hp2
HG00423.hp1
HG00438.hp2
others(144): Show 
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3217-794_3217-751d
others(46): Show 
c.3217-794_3217-751delGGAACCCTCCCACCTTCCCTCTGGAGCC
CTCCCACCTTCCCTCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45506745
chr21:45506748 GCCCTCCC
others(15): Show 
GCCCTCCCACCTTCCCTCTGGAA
 G
G
 42 a0001c0004t0001g0018
a0001c0004t0016g0051
a0001c0006t0003g0079
others(39): Show 
a0001c0004t0001g0018
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0078
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0054t0002g0201
a0001c0062t0002g0097
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0080t0004g0057
a0001c0087t0001g0055
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0012c0065t0002g0096
a0013c0102t0004g0196
a0015c0029t0003g0226
a0015c0029t0003g0227
a0020c0094t0011g0075
a0026c0044t0001g0037
a0033c0077t0003g0098
 42 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(39): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02109.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp1
HG03942.hp1
HG04204.hp2
NA18522.hp2
NA18747.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3217-791_3217-770d
others(24): Show 
c.3217-791_3217-770delACCCTCCCACCTTCCCTCTGGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45506748
chr21:45506752 T
T
 TCCCACCT
others(13): Show 
TCCCACCTTCCTTCTAGCATG
 2 a0014c0039t0009g0197
a0014c0039t0009g0198
a0014c0039t0009g0197
a0014c0039t0009g0198
 2 HG02559.hp1
HG02630.hp1
HG02559.hp1
HG02630.hp1
 intron_variant MODIFIER c.3216+796_3216+797i
others(22): Show 
c.3216+796_3216+797insTTCTAGCATGCCCACCTTCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45506752
chr21:45506763 C
C
 T
T
 4 a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
others(1): Show 
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
a0023c0085t0002g0106
 4 HG00639.hp2
HG02280.hp1
HG02735.hp1
others(1): Show 
HG00639.hp2
HG02280.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.3216+797C>T
c.3216+797C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506763
chr21:45506766 TGG
TGG
 T
T
 3 a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 3 HG02280.hp1
HG02735.hp1
NA19012.hp1
HG02280.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.3217-794_3217-793d
others(4): Show 
c.3217-794_3217-793delGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506766
chr21:45506767 G
G
 A
A
 1 a0023c0085t0002g0106
a0023c0085t0002g0106
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.3217-794G>A
c.3217-794G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506767
chr21:45506770 A
A
 G
G
 12 a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0074t0004g0200
others(9): Show 
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0023c0085t0002g0106
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 12 HG00639.hp2
HG01167.hp1
HG01496.hp1
others(9): Show 
HG00639.hp2
HG01167.hp1
HG01496.hp1
HG02280.hp1
HG02559.hp1
HG02630.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03540.hp1
NA19012.hp1
 intron_variant MODIFIER c.3217-791A>G
c.3217-791A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506770
chr21:45506770 ACCCTCCC
others(15): Show 
ACCCTCCCACCTTCCCTCTGGAG
 A
A
 9 a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0005t0002g0239
others(6): Show 
a0001c0002t0002g0023
a0001c0002t0002g0236
a0001c0005t0002g0239
a0001c0008t0002g0240
a0001c0008t0002g0268
a0001c0008t0002g0270
a0001c0008t0002g0272
a0004c0099t0003g0030
a0032c0052t0002g0077
 9 HG00140.hp1
HG00140.hp2
HG00639.hp1
others(6): Show 
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG01496.hp2
HG01978.hp1
HG02004.hp1
HG02273.hp2
HG02922.hp1
NA18999.hp2
 intron_variant MODIFIER c.3217-772_3217-751d
others(24): Show 
c.3217-772_3217-751delGGAGCCCTCCCACCTTCCCTCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45506770
chr21:45506772 C
C
 A
A
 3 a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 3 HG02280.hp1
HG02735.hp1
NA19012.hp1
HG02280.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.3217-789C>A
c.3217-789C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506772
chr21:45506773 C
C
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3217-788C>T
c.3217-788C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506773
chr21:45506774 T
T
 G
G
 3 a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 3 HG02280.hp1
HG02735.hp1
NA19012.hp1
HG02280.hp1
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.3217-787T>G
c.3217-787T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506774
chr21:45506781 T
T
 C
C
 8 a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
others(5): Show 
a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG01167.hp1
HG01496.hp1
HG02559.hp1
others(5): Show 
HG01167.hp1
HG01496.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03540.hp1
 intron_variant MODIFIER c.3217-780T>C
c.3217-780T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506781
chr21:45506785 C
C
 T
T
 8 a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
others(5): Show 
a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG01167.hp1
HG01496.hp1
HG02559.hp1
others(5): Show 
HG01167.hp1
HG01496.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03540.hp1
 intron_variant MODIFIER c.3217-776C>T
c.3217-776C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506785
chr21:45506786 T
T
 A
A
 8 a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
others(5): Show 
a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG01167.hp1
HG01496.hp1
HG02559.hp1
others(5): Show 
HG01167.hp1
HG01496.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03540.hp1
 intron_variant MODIFIER c.3217-775T>A
c.3217-775T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506786
chr21:45506787 C
C
 CTGGAGCC
others(15): Show 
CTGGAGCCCTCCCACCCTCCTAT
 3 a0001c0005t0003g0211
a0001c0055t0003g0152
a0023c0085t0002g0106
a0001c0005t0003g0211
a0001c0055t0003g0152
a0023c0085t0002g0106
 3 HG00639.hp2
HG02735.hp1
NA19012.hp1
HG00639.hp2
HG02735.hp1
NA19012.hp1
 intron_variant MODIFIER c.3217-759_3217-758i
others(24): Show 
c.3217-759_3217-758insCTCCTATTGGAGCCCTCCCACC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45506787
chr21:45506787 C
C
 T
T
 8 a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
others(5): Show 
a0001c0074t0004g0200
a0002c0012t0004g0058
a0002c0103t0001g0136
a0014c0039t0009g0197
a0014c0039t0009g0198
a0031c0092t0011g0190
a0036c0048t0004g0184
a0037c0049t0004g0183
 8 HG01167.hp1
HG01496.hp1
HG02559.hp1
others(5): Show 
HG01167.hp1
HG01496.hp1
HG02559.hp1
HG02630.hp1
HG02809.hp1
HG02886.hp1
HG03239.hp1
HG03540.hp1
 intron_variant MODIFIER c.3217-774C>T
c.3217-774C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506787
chr21:45506807 C
C
 T
T
 1 a0001c0002t0003g0143
a0001c0002t0003g0143
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.3217-754C>T
c.3217-754C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45506807
chr21:45507071 TGGGTGCT
others(102): Show 
TGGGTGCTGGGCAGGGAGGGCAACCTGCCGTGGACTGGGAGGGCTGGGTG
CTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTGTTGGGG
AGGGAGAGGC
 T
T
 3 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0192
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0192
 3 HG02559.hp2
HG03098.hp2
NA20300.hp2
HG02559.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.3217-468_3217-360d
others(2): Show 
c.3217-468_3217-360del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507071
chr21:45507099 C
C
 T
T
 198 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(195): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0007t0002g0194
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 198 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(195): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3217-462C>T
c.3217-462C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507099
chr21:45507115 TGGGTGCT
others(58): Show 
TGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTG
TTGGGGAGGGAGAGGC
 T
T
 160 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
others(157): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 160 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(157): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3217-381_3217-317d
others(67): Show 
c.3217-381_3217-317delCGGGTGCTGGGCAGGGAGGGCACCCTCC
TGTGGGCTGGGAGGGCCGGGTGTTGGGGAGGGAGAGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507115
chr21:45507179 GCGGGTGC
others(146): Show 
GCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGT
GTTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCAACCTGCTGTGGA
CTGGGAGGGCCGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGCA
GGGC
 G
G
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3217-355_3217-203d
others(2): Show 
c.3217-355_3217-203del
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507179
chr21:45507180 CGGGTGCT
others(58): Show 
CGGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCGGGTG
TTGGGGAGGGAGAGGT
 C
C
 4 a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
others(1): Show 
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
 4 HG01891.hp1
HG02109.hp1
HG02723.hp1
others(1): Show 
HG01891.hp1
HG02109.hp1
HG02723.hp1
NA20129.hp1
 intron_variant MODIFIER c.3217-359_3217-295d
others(67): Show 
c.3217-359_3217-295delCCCTCCTGTGGGCTGGGAGGGCCGGGTG
TTGGGGAGGGAGAGGTGGGTGCTGGGCAGGGAGGGCA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507180
chr21:45507271 G
G
 C
C
 1 a0001c0004t0001g0032
a0001c0004t0001g0032
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.3217-290G>C
c.3217-290G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507271
chr21:45507333 C
C
 T
T
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3217-228C>T
c.3217-228C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507333
chr21:45507348 G
G
 A
A
 28 a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
others(25): Show 
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0003c0046t0001g0002
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0015c0029t0003g0226
a0015c0029t0003g0227
a0026c0044t0001g0037
a0033c0077t0003g0098
 28 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(25): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03239.hp2
NA18522.hp2
NA18747.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3217-213G>A
c.3217-213G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507348
chr21:45507359 G
G
 A
A
 28 a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
others(25): Show 
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0073t0003g0034
a0003c0046t0001g0002
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0015c0029t0003g0226
a0015c0029t0003g0227
a0026c0044t0001g0037
a0033c0077t0003g0098
 28 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(25): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03239.hp2
NA18522.hp2
NA18747.hp2
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3217-202G>A
c.3217-202G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507359
chr21:45507422 AGGTGCTG
others(58): Show 
AGGTGCTGGGCAGGGAGGGCACCCTCCTGTGGGCTGGGAGGGCCAGGTGC
TGGGGCGGGAGAGTCG
 A
A
 1 a0001c0004t0001g0087
a0001c0004t0001g0087
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.3217-114_3217-50de
others(66): Show 
c.3217-114_3217-50delCCTGTGGGCTGGGAGGGCCAGGTGCTGGG
GCGGGAGAGTCGGGTGCTGGGCAGGGAGGGCACCCT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507422
chr21:45507450 GTGGGCTG
others(35): Show 
GTGGGCTGGGAGGGCCAGGTGCTGGGGCGGGAGAGTCGGGTGC
 G
G
 2 a0001c0001t0001g0125
a0001c0004t0001g0271
a0001c0001t0001g0125
a0001c0004t0001g0271
 2 HG00423.hp1
NA18945.hp2
HG00423.hp1
NA18945.hp2
 intron_variant MODIFIER c.3217-105_3217-64de
others(43): Show 
c.3217-105_3217-64delTGGGAGGGCCAGGTGCTGGGGCGGGAGAG
TCGGGTGCTGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507450
chr21:45507456 TGGGAGGG
others(35): Show 
TGGGAGGGCCAGGTGCTGGGGCGGGAGAGTCGGGTGCTGGGCA
 T
T
 152 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(149): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0007t0002g0194
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0034c0075t0001g0116
a0035c0078t0001g0115
 152 HG00099.hp2
HG00280.hp2
HG00438.hp2
others(149): Show 
HG00099.hp2
HG00280.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3217-96_3217-55del
others(42): Show 
c.3217-96_3217-55delCAGGTGCTGGGGCGGGAGAGTCGGGTGCTG
GGCAGGGAGGGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 INFO_REALIGN_3_PRIME chr21 45507456
chr21:45507466 A
A
 G
G
 1 a0004c0099t0003g0030
a0004c0099t0003g0030
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.3217-95A>G
c.3217-95A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507466
chr21:45507489 G
G
 A
A
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3217-72G>A
c.3217-72G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 37/41 chr21 45507489
chr21:45507644 G
G
 A
A
 3 a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0192
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0192
 3 HG02559.hp2
HG03098.hp2
NA20300.hp2
HG02559.hp2
HG03098.hp2
NA20300.hp2
 intron_variant MODIFIER c.3249+51G>A
c.3249+51G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507644
chr21:45507690 G
G
 A
A
 1 a0006c0026t0001g0083
a0006c0026t0001g0083
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.3249+97G>A
c.3249+97G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507690
chr21:45507707 G
G
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3249+114G>A
c.3249+114G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507707
chr21:45507750 C
C
 G
G
 1 a0001c0006t0003g0215
a0001c0006t0003g0215
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.3249+157C>G
c.3249+157C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507750
chr21:45507791 G
G
 A
A
 1 a0002c0021t0002g0001
a0002c0021t0002g0001
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.3249+198G>A
c.3249+198G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507791
chr21:45507848 G
G
 A
A
 5 a0001c0001t0001g0149
a0001c0001t0001g0150
a0002c0067t0001g0041
others(2): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0002c0067t0001g0041
a0022c0068t0010g0004
a0024c0066t0010g0066
 5 HG01261.hp2
HG02280.hp2
HG02895.hp2
others(2): Show 
HG01261.hp2
HG02280.hp2
HG02895.hp2
HG03130.hp2
NA19240.hp2
 intron_variant MODIFIER c.3249+255G>A
c.3249+255G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507848
chr21:45507854 C
C
 T
T
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3249+261C>T
c.3249+261C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507854
chr21:45507855 G
G
 A
A
 1 a0001c0074t0004g0200
a0001c0074t0004g0200
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3249+262G>A
c.3249+262G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45507855
chr21:45507995 AGGTGGAT
others(9): Show 
AGGTGGATGGATGGATG
 A
A
 1 a0002c0021t0002g0186
a0002c0021t0002g0186
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3249+413_3249+428d
others(18): Show 
c.3249+413_3249+428delTGGATGGGTGGATGGA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45507995
chr21:45508040 C
C
 T
T
 1 a0001c0098t0001g0007
a0001c0098t0001g0007
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.3249+447C>T
c.3249+447C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508040
chr21:45508080 ACAGGTGG
others(20): Show 
ACAGGTGGGTGAGTGGATGGATGGTGGT
 A
A
 2 a0012c0065t0002g0096
a0023c0085t0002g0106
a0012c0065t0002g0096
a0023c0085t0002g0106
 2 HG00639.hp2
HG03942.hp1
HG00639.hp2
HG03942.hp1
 intron_variant MODIFIER c.3249+492_3249+518d
others(29): Show 
c.3249+492_3249+518delTGGGTGAGTGGATGGATGGTGGTCAGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508080
chr21:45508125 G
G
 A
A
 5 a0001c0001t0001g0149
a0001c0001t0001g0150
a0002c0067t0001g0041
others(2): Show 
a0001c0001t0001g0149
a0001c0001t0001g0150
a0002c0067t0001g0041
a0022c0068t0010g0004
a0024c0066t0010g0066
 5 HG01261.hp2
HG02280.hp2
HG02895.hp2
others(2): Show 
HG01261.hp2
HG02280.hp2
HG02895.hp2
HG03130.hp2
NA19240.hp2
 intron_variant MODIFIER c.3249+532G>A
c.3249+532G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508125
chr21:45508159 A
A
 G
G
 7 a0001c0069t0005g0038
a0002c0020t0003g0156
a0008c0018t0005g0067
others(4): Show 
a0001c0069t0005g0038
a0002c0020t0003g0156
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0019c0096t0015g0045
 7 HG02109.hp2
HG02280.hp1
HG02630.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
NA19043.hp1
 intron_variant MODIFIER c.3249+566A>G
c.3249+566A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508159
chr21:45508184 T
T
 G
G
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3249+591T>G
c.3249+591T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508184
chr21:45508196 AGGTGGGT
others(13): Show 
AGGTGGGTGAGTGTATGAATG
 A
A
 1 a0001c0025t0002g0164
a0001c0025t0002g0164
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.3249+612_3249+631d
others(22): Show 
c.3249+612_3249+631delAGTGTATGAATGGGTGGGTG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508196
chr21:45508207 T
T
 C
C
 1 a0001c0007t0002g0185
a0001c0007t0002g0185
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.3249+614T>C
c.3249+614T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508207
chr21:45508241 GTGAGTGG
others(1): Show 
GTGAGTGGA
 G
G
 6 a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
others(3): Show 
a0001c0002t0002g0107
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0140
a0001c0090t0002g0089
a0002c0084t0002g0212
 6 HG00323.hp2
HG00735.hp1
HG00738.hp2
others(3): Show 
HG00323.hp2
HG00735.hp1
HG00738.hp2
HG01255.hp2
HG02698.hp2
HG03831.hp1
 intron_variant MODIFIER c.3249+651_3249+658d
others(10): Show 
c.3249+651_3249+658delAGTGGATG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508241
chr21:45508277 TAGGTAGA
others(5): Show 
TAGGTAGATGGGG
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3249+689_3249+700d
others(14): Show 
c.3249+689_3249+700delAGATGGGGAGGT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508277
chr21:45508304 T
T
 C
C
 2 a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0023t0002g0138
a0004c0023t0002g0163
 2 HG01891.hp2
HG03225.hp1
HG01891.hp2
HG03225.hp1
 intron_variant MODIFIER c.3249+711T>C
c.3249+711T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508304
chr21:45508387 AGATGGAT
others(32): Show 
AGATGGATGGTGGATAGGTAGATGAGTGGATGAATGGGTG
 A
A
 1 a0007c0031t0002g0160
a0007c0031t0002g0160
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.3249+807_3249+845d
others(41): Show 
c.3249+807_3249+845delATAGGTAGATGAGTGGATGAATGGGTGG
ATGGATGGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508387
chr21:45508442 A
A
 AGTGGGTG
others(28): Show 
AGTGGGTGAGTGGATGGGTGGCTGGATGGTGGACAG
 11 a0001c0019t0003g0139
a0001c0069t0005g0038
a0008c0018t0005g0067
others(8): Show 
a0001c0019t0003g0139
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0012c0065t0002g0096
a0019c0096t0015g0045
a0020c0094t0011g0075
a0023c0085t0002g0106
a0031c0092t0011g0190
 11 HG00639.hp2
HG01496.hp1
HG02109.hp2
others(8): Show 
HG00639.hp2
HG01496.hp1
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG03942.hp1
 intron_variant MODIFIER c.3249+869_3249+870i
others(37): Show 
c.3249+869_3249+870insCTGGATGGTGGACAGGTGGGTGAGTGGA
TGGGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508442
chr21:45508442 A
A
 AGTGGGTG
others(63): Show 
AGTGGGTGAGTGGATGGGTGGCTGGATGGTGGACAGGTGGGTGAGTGGAT
GGGTGGCTGGATGGTGGACAG
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3249+869_3249+870i
others(72): Show 
c.3249+869_3249+870insCTGGATGGTGGACAGGTGGGTGAGTGGA
TGGGTGGCTGGATGGTGGACAGGTGGGTGAGTGGATGGGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508442
chr21:45508449 GAGTGGAT
others(60): Show 
GAGTGGATGGGTGGATGGACAGGTGGGTGAGTGGATGGGTGGGTGGATGG
ATGGTGGGTAAGTGGGTT
 G
G
 1 a0005c0058t0001g0165
a0005c0058t0001g0165
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.3249+870_3250-827d
others(69): Show 
c.3249+870_3250-827delATGGACAGGTGGGTGAGTGGATGGGTGG
GTGGATGGATGGTGGGTAAGTGGGTTAGTGGATGGGTGG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 INFO_REALIGN_3_PRIME chr21 45508449
chr21:45508529 G
G
 C
C
 1 a0001c0002t0002g0091
a0001c0002t0002g0091
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.3250-827G>C
c.3250-827G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508529
chr21:45508609 A
A
 C
C
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3250-747A>C
c.3250-747A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508609
chr21:45508709 A
A
 T
T
 9 a0001c0038t0004g0028
a0001c0038t0004g0029
a0002c0012t0004g0040
others(6): Show 
a0001c0038t0004g0028
a0001c0038t0004g0029
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0103t0001g0136
a0036c0048t0004g0184
a0037c0049t0004g0183
 9 HG01167.hp1
HG02572.hp1
HG02622.hp1
others(6): Show 
HG01167.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG03239.hp1
HG03486.hp1
 intron_variant MODIFIER c.3250-647A>T
c.3250-647A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508709
chr21:45508729 T
T
 A
A
 1 a0002c0020t0003g0156
a0002c0020t0003g0156
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.3250-627T>A
c.3250-627T>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508729
chr21:45508835 A
A
 G
G
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3250-521A>G
c.3250-521A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508835
chr21:45508897 G
G
 A
A
 3 a0012c0065t0002g0096
a0020c0094t0011g0075
a0023c0085t0002g0106
a0012c0065t0002g0096
a0020c0094t0011g0075
a0023c0085t0002g0106
 3 HG00639.hp2
HG02717.hp1
HG03942.hp1
HG00639.hp2
HG02717.hp1
HG03942.hp1
 intron_variant MODIFIER c.3250-459G>A
c.3250-459G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45508897
chr21:45509061 G
G
 A
A
 2 a0012c0065t0002g0096
a0023c0085t0002g0106
a0012c0065t0002g0096
a0023c0085t0002g0106
 2 HG00639.hp2
HG03942.hp1
HG00639.hp2
HG03942.hp1
 intron_variant MODIFIER c.3250-295G>A
c.3250-295G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509061
chr21:45509062 C
C
 T
T
 9 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(6): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0019c0096t0015g0045
 9 HG02109.hp2
HG02280.hp1
HG02630.hp2
others(6): Show 
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG02735.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3250-294C>T
c.3250-294C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509062
chr21:45509157 G
G
 A
A
 6 a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
others(3): Show 
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0003c0046t0001g0002
a0026c0044t0001g0037
 6 HG00733.hp2
HG01167.hp2
HG02647.hp1
others(3): Show 
HG00733.hp2
HG01167.hp2
HG02647.hp1
HG02922.hp2
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.3250-199G>A
c.3250-199G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509157
chr21:45509170 G
G
 A
A
 6 a0001c0069t0005g0038
a0001c0090t0002g0089
a0008c0018t0005g0067
others(3): Show 
a0001c0069t0005g0038
a0001c0090t0002g0089
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 6 HG02109.hp2
HG02630.hp2
HG02698.hp2
others(3): Show 
HG02109.hp2
HG02630.hp2
HG02698.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3250-186G>A
c.3250-186G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509170
chr21:45509180 A
A
 G
G
 148 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(145): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 148 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(145): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3250-176A>G
c.3250-176A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509180
chr21:45509227 C
C
 T
T
 1 a0001c0005t0006g0173
a0001c0005t0006g0173
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.3250-129C>T
c.3250-129C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509227
chr21:45509233 C
C
 T
T
 1 a0001c0037t0001g0157
a0001c0037t0001g0157
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3250-123C>T
c.3250-123C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509233
chr21:45509291 C
C
 T
T
 1 a0005c0060t0001g0063
a0005c0060t0001g0063
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.3250-65C>T
c.3250-65C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 38/41 chr21 45509291
chr21:45509603 T
T
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 splice_donor_variant&intron_variant HIGH c.3495+2T>G
c.3495+2T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509603
chr21:45509604 G
G
 A
A
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 splice_region_variant&intron_variant LOW c.3495+3G>A
c.3495+3G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509604
chr21:45509608 G
G
 C
C
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 splice_region_variant&intron_variant LOW c.3495+7G>C
c.3495+7G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509608
chr21:45509608 GC
GC
 G
G
 173 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(170): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0017t0003g0284
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 173 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(170): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3495+14delC
c.3495+14delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 INFO_REALIGN_3_PRIME chr21 45509608
chr21:45509609 C
C
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 splice_region_variant&intron_variant LOW c.3495+8C>G
c.3495+8C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509609
chr21:45509613 C
C
 T
T
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+12C>T
c.3495+12C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509613
chr21:45509614 C
C
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+13C>G
c.3495+13C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509614
chr21:45509615 C
C
 T
T
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+14C>T
c.3495+14C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509615
chr21:45509616 A
A
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+15A>G
c.3495+15A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509616
chr21:45509617 A
A
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+16A>G
c.3495+16A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509617
chr21:45509620 T
T
 C
C
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+19T>C
c.3495+19T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509620
chr21:45509626 T
T
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+25T>G
c.3495+25T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509626
chr21:45509633 A
A
 T
T
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+32A>T
c.3495+32A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509633
chr21:45509635 C
C
 G
G
 1 a0001c0004t0001g0022
a0001c0004t0001g0022
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.3495+34C>G
c.3495+34C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509635
chr21:45509639 C
C
 G
G
 42 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0006t0003g0079
others(39): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0055t0003g0152
a0001c0073t0003g0034
a0001c0074t0004g0200
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0003c0046t0001g0002
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0019c0096t0015g0045
a0026c0044t0001g0037
a0033c0077t0003g0098
a0036c0048t0004g0184
a0037c0049t0004g0183
 42 HG00280.hp1
HG00642.hp1
HG00733.hp1
others(39): Show 
HG00280.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG01167.hp2
HG01192.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG02109.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03540.hp1
NA18522.hp2
NA18747.hp2
NA18953.hp2
NA19012.hp1
NA20129.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3495+38C>G
c.3495+38C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509639
chr21:45509648 T
T
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+47T>G
c.3495+47T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509648
chr21:45509651 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3495+50C>T
c.3495+50C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509651
chr21:45509655 A
A
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+54A>G
c.3495+54A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509655
chr21:45509660 A
A
 C
C
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+59A>C
c.3495+59A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509660
chr21:45509665 G
G
 A
A
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+64G>A
c.3495+64G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509665
chr21:45509677 G
G
 T
T
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+76G>T
c.3495+76G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509677
chr21:45509681 A
A
 G
G
 3 a0001c0003t0001g0005
a0004c0091t0001g0056
a0011c0040t0001g0076
a0001c0003t0001g0005
a0004c0091t0001g0056
a0011c0040t0001g0076
 3 HG02055.hp2
HG02451.hp1
HG02572.hp2
HG02055.hp2
HG02451.hp1
HG02572.hp2
 intron_variant MODIFIER c.3495+80A>G
c.3495+80A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509681
chr21:45509694 C
C
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+93C>G
c.3495+93C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509694
chr21:45509704 G
G
 A
A
 2 a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0026t0001g0083
a0006c0026t0003g0219
 2 HG03017.hp2
homoSapiens_chm13v2.hp1
HG03017.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3495+103G>A
c.3495+103G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509704
chr21:45509708 A
A
 C
C
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+107A>C
c.3495+107A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509708
chr21:45509709 T
T
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+108T>G
c.3495+108T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509709
chr21:45509714 G
G
 A
A
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+113G>A
c.3495+113G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509714
chr21:45509714 G
G
 C
C
 1 a0001c0001t0001g0149
a0001c0001t0001g0149
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.3495+113G>C
c.3495+113G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509714
chr21:45509725 G
G
 A
A
 1 a0001c0003t0001g0287
a0001c0003t0001g0287
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.3495+124G>A
c.3495+124G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509725
chr21:45509738 T
T
 G
G
 1 a0034c0075t0001g0116
a0034c0075t0001g0116
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.3495+137T>G
c.3495+137T>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509738
chr21:45509745 G
G
 A
A
 1 a0027c0070t0001g0012
a0027c0070t0001g0012
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.3495+144G>A
c.3495+144G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509745
chr21:45509756 C
C
 G
G
 11 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(8): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0012c0065t0002g0096
a0019c0096t0015g0045
a0023c0085t0002g0106
 11 HG00639.hp2
HG02109.hp2
HG02280.hp1
others(8): Show 
HG00639.hp2
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG02735.hp1
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG03942.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3495+155C>G
c.3495+155C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509756
chr21:45509804 CCG
CCG
 C
C
 6 a0001c0002t0012g0109
a0001c0004t0001g0213
a0001c0022t0001g0008
others(3): Show 
a0001c0002t0012g0109
a0001c0004t0001g0213
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0005c0060t0001g0063
 6 HG02809.hp2
HG03209.hp1
HG03209.hp2
others(3): Show 
HG02809.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.3495+205_3495+206d
others(4): Show 
c.3495+205_3495+206delGC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 INFO_REALIGN_3_PRIME chr21 45509804
chr21:45509806 G
G
 C
C
 197 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(194): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0268
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0012c0088t0002g0006
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 197 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(194): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3495+205G>C
c.3495+205G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509806
chr21:45509808 T
T
 C
C
 6 a0001c0002t0012g0109
a0001c0004t0001g0213
a0001c0022t0001g0008
others(3): Show 
a0001c0002t0012g0109
a0001c0004t0001g0213
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0005c0060t0001g0063
 6 HG02809.hp2
HG03209.hp1
HG03209.hp2
others(3): Show 
HG02809.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.3495+207T>C
c.3495+207T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509808
chr21:45509826 C
C
 T
T
 2 a0036c0048t0004g0184
a0037c0049t0004g0183
a0036c0048t0004g0184
a0037c0049t0004g0183
 2 HG02809.hp1
HG02886.hp1
HG02809.hp1
HG02886.hp1
 intron_variant MODIFIER c.3495+225C>T
c.3495+225C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509826
chr21:45509831 G
G
 A
A
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3495+230G>A
c.3495+230G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509831
chr21:45509866 C
C
 G
G
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3496-198C>G
c.3496-198C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509866
chr21:45509935 G
G
 C
C
 1 a0013c0051t0001g0195
a0013c0051t0001g0195
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.3496-129G>C
c.3496-129G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509935
chr21:45509963 C
C
 T
T
 1 a0001c0081t0003g0154
a0001c0081t0003g0154
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.3496-101C>T
c.3496-101C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509963
chr21:45509983 C
C
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3496-81C>T
c.3496-81C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45509983
chr21:45510003 C
C
 T
T
 1 a0001c0087t0001g0055
a0001c0087t0001g0055
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.3496-61C>T
c.3496-61C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45510003
chr21:45510059 C
C
 T
T
 2 a0020c0094t0011g0075
a0031c0092t0011g0190
a0020c0094t0011g0075
a0031c0092t0011g0190
 2 HG01496.hp1
HG02717.hp1
HG01496.hp1
HG02717.hp1
 splice_region_variant&intron_variant LOW c.3496-5C>T
c.3496-5C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 39/41 chr21 45510059
chr21:45510411 C
C
 T
T
 1 a0001c0001t0013g0276
a0001c0001t0013g0276
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.3693+150C>T
c.3693+150C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510411
chr21:45510470 G
G
 C
C
 200 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(197): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0008t0002g0270
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 200 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(197): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3693+209G>C
c.3693+209G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510470
chr21:45510472 C
C
 T
T
 1 a0009c0016t0001g0084
a0009c0016t0001g0084
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.3693+211C>T
c.3693+211C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510472
chr21:45510499 C
C
 T
T
 190 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(187): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 190 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(187): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3693+238C>T
c.3693+238C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510499
chr21:45510508 C
C
 T
T
 190 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(187): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0002g0140
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
 190 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(187): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3693+247C>T
c.3693+247C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510508
chr21:45510528 C
C
 T
T
 9 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
others(6): Show 
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0014c0039t0009g0197
a0014c0039t0009g0198
 9 HG02559.hp1
HG02572.hp1
HG02622.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02886.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.3693+267C>T
c.3693+267C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510528
chr21:45510583 G
G
 A
A
 2 a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0023t0002g0138
a0004c0023t0002g0163
 2 HG01891.hp2
HG03225.hp1
HG01891.hp2
HG03225.hp1
 intron_variant MODIFIER c.3693+322G>A
c.3693+322G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510583
chr21:45510612 C
C
 T
T
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3693+351C>T
c.3693+351C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510612
chr21:45510635 T
T
 C
C
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3693+374T>C
c.3693+374T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510635
chr21:45510646 G
G
 A
A
 1 a0001c0002t0002g0105
a0001c0002t0002g0105
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.3693+385G>A
c.3693+385G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510646
chr21:45510786 A
A
 G
G
 197 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(194): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 197 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(194): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-325A>G
c.3694-325A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510786
chr21:45510795 T
T
 C
C
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-316T>C
c.3694-316T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510795
chr21:45510881 C
C
 T
T
 90 a0001c0001t0001g0093
a0001c0001t0001g0120
a0001c0001t0001g0124
others(87): Show 
a0001c0001t0001g0093
a0001c0001t0001g0120
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0187
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0221
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0022
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0090
a0001c0004t0001g0174
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0005t0003g0211
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0064t0001g0061
a0001c0074t0004g0200
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0089t0001g0119
a0001c0093t0001g0251
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0036t0001g0292
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0019c0096t0015g0045
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 90 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(87): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG02055.hp2
HG02071.hp2
HG02083.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02970.hp1
HG03017.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18944.hp2
NA18945.hp2
NA18949.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18983.hp2
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19070.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
 intron_variant MODIFIER c.3694-230C>T
c.3694-230C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510881
chr21:45510882 A
A
 G
G
 206 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(203): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0020t0003g0156
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0099t0003g0030
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 206 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(203): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-229A>G
c.3694-229A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510882
chr21:45510898 A
A
 G
G
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-213A>G
c.3694-213A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510898
chr21:45510932 CA
CA
 C
C
 9 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
others(6): Show 
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0014c0039t0009g0197
a0014c0039t0009g0198
 9 HG02559.hp1
HG02572.hp1
HG02622.hp1
others(6): Show 
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02886.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.3694-172delA
c.3694-172delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45510932
chr21:45510939 A
A
 G
G
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-172A>G
c.3694-172A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510939
chr21:45510946 C
C
 CCCACACA
others(7): Show 
CCCACACACACACAT
 74 a0001c0002t0001g0080
a0001c0002t0002g0047
a0001c0002t0002g0060
others(71): Show 
a0001c0002t0001g0080
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0188
a0001c0002t0002g0231
a0001c0002t0002g0235
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0002g0280
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0194
a0001c0007t0002g0208
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0062t0002g0097
a0001c0090t0002g0089
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0084t0002g0212
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0045t0006g0242
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0076t0002g0281
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0017c0043t0002g0015
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0031c0092t0011g0190
 74 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(71): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01517.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02080.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp2
HG02155.hp1
HG02165.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03225.hp1
HG03654.hp1
HG03688.hp1
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18983.hp1
NA18995.hp1
NA18998.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19074.hp2
NA19091.hp1
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.3694-160_3694-159i
others(16): Show 
c.3694-160_3694-159insCACACACATCCACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45510946
chr21:45510951 A
A
 ACAC
ACAC
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-160_3694-159i
others(5): Show 
c.3694-160_3694-159insCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510951
chr21:45510951 AACACCCC
others(51): Show 
AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA
CACCCCCCC
 A
A
 190 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(187): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 190 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(187): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-159_3694-102d
others(60): Show 
c.3694-159_3694-102delACACCCCACATACACCCCCAAACACCCC
CCACACCCCACACACACAACACACCCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510951
chr21:45510951 AACACCCC
others(53): Show 
AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA
CACCCCCCCCC
 A
A
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3694-159_3694-100d
others(62): Show 
c.3694-159_3694-100delACACCCCACATACACCCCCAAACACCCC
CCACACCCCACACACACAACACACCCCCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510951
chr21:45510951 AACACCCC
others(62): Show 
AACACCCCACATACACCCCCAAACACCCCCCACACCCCACACACACAACA
CACCCCCCCCCCACACATCC
 A
A
 1 a0003c0015t0001g0168
a0003c0015t0001g0168
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.3694-148_3694-80de
others(70): Show 
c.3694-148_3694-80delACACCCCCAAACACCCCCCACACCCCACA
CACACAACACACCCCCCCCCCACACATCCACACCCCACAT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45510951
chr21:45510955 C
C
 CA
CA
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-156_3694-155i
others(3): Show 
c.3694-156_3694-155insA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510955
chr21:45510956 C
C
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-155C>T
c.3694-155C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510956
chr21:45510961 AT
AT
 A
A
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-149delT
c.3694-149delT
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510961
chr21:45510962 T
T
 C
C
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-149T>C
c.3694-149T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510962
chr21:45510967 C
C
 A
A
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-144C>A
c.3694-144C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510967
chr21:45510969 C
C
 CA
CA
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-142_3694-141i
others(3): Show 
c.3694-142_3694-141insA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510969
chr21:45510971 AAACACCC
others(31): Show 
AAACACCCCCCACACCCCACACACACAACACACCCCCCC
 A
A
 3 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
 3 HG02735.hp1
NA18953.hp2
NA19012.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-139_3694-102d
others(40): Show 
c.3694-139_3694-102delAACACCCCCCACACCCCACACACACAAC
ACACCCCCCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510971
chr21:45510972 A
A
 T
T
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-139A>T
c.3694-139A>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510972
chr21:45510980 C
C
 CA
CA
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-131_3694-130i
others(3): Show 
c.3694-131_3694-130insA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510980
chr21:45510981 C
C
 A
A
 5 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(2): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
 5 HG02109.hp2
HG02630.hp2
HG03130.hp1
others(2): Show 
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.3694-130C>A
c.3694-130C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510981
chr21:45510988 C
C
 A
A
 1 a0001c0002t0002g0231
a0001c0002t0002g0231
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.3694-123C>A
c.3694-123C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510988
chr21:45510989 A
A
 C
C
 7 a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
others(4): Show 
a0001c0069t0005g0038
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0012c0065t0002g0096
a0023c0085t0002g0106
 7 HG00639.hp2
HG02109.hp2
HG02630.hp2
others(4): Show 
HG00639.hp2
HG02109.hp2
HG02630.hp2
HG03130.hp1
HG03453.hp1
HG03579.hp1
HG03942.hp1
 intron_variant MODIFIER c.3694-122A>C
c.3694-122A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510989
chr21:45510993 ACAC
ACAC
 A
A
 3 a0002c0021t0002g0001
a0002c0021t0002g0148
a0011c0104t0002g0003
a0002c0021t0002g0001
a0002c0021t0002g0148
a0011c0104t0002g0003
 3 HG02717.hp2
HG02965.hp1
HG03041.hp1
HG02717.hp2
HG02965.hp1
HG03041.hp1
 intron_variant MODIFIER c.3694-117_3694-115d
others(5): Show 
c.3694-117_3694-115delCAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45510993
chr21:45510993 ACACAACA
others(3): Show 
ACACAACACAC
 A
A
 1 a0001c0002t0002g0231
a0001c0002t0002g0231
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.3694-116_3694-107d
others(12): Show 
c.3694-116_3694-107delACAACACACC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45510993
chr21:45511002 AC
AC
 A
A
 77 a0001c0002t0001g0080
a0001c0002t0002g0047
a0001c0002t0002g0060
others(74): Show 
a0001c0002t0001g0080
a0001c0002t0002g0047
a0001c0002t0002g0060
a0001c0002t0002g0074
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0114
a0001c0002t0002g0117
a0001c0002t0002g0133
a0001c0002t0002g0137
a0001c0002t0002g0140
a0001c0002t0002g0178
a0001c0002t0002g0235
a0001c0002t0002g0238
a0001c0002t0002g0269
a0001c0002t0002g0283
a0001c0002t0006g0233
a0001c0002t0017g0216
a0001c0005t0002g0070
a0001c0005t0002g0158
a0001c0005t0002g0217
a0001c0005t0002g0224
a0001c0005t0002g0232
a0001c0005t0006g0173
a0001c0005t0006g0218
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0007t0002g0078
a0001c0007t0002g0161
a0001c0007t0002g0185
a0001c0007t0002g0208
a0001c0025t0002g0159
a0001c0025t0002g0164
a0001c0030t0002g0285
a0001c0030t0002g0286
a0001c0033t0002g0100
a0001c0033t0002g0169
a0001c0054t0002g0201
a0001c0062t0002g0097
a0001c0069t0005g0038
a0001c0090t0002g0089
a0002c0020t0003g0156
a0002c0021t0002g0001
a0002c0021t0002g0148
a0002c0021t0002g0186
a0002c0084t0002g0212
a0003c0010t0002g0068
a0003c0010t0002g0151
a0003c0010t0002g0172
a0003c0010t0006g0014
a0003c0045t0006g0242
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0057t0002g0035
a0004c0099t0003g0030
a0007c0031t0002g0123
a0007c0031t0002g0160
a0007c0076t0002g0281
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0011c0104t0002g0003
a0012c0065t0002g0096
a0012c0088t0002g0006
a0017c0043t0002g0015
a0020c0094t0011g0075
a0023c0085t0002g0106
a0025c0050t0002g0108
a0031c0092t0011g0190
 77 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(74): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp2
HG00639.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01517.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03831.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18944.hp1
NA18949.hp2
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18964.hp1
NA18966.hp1
NA18975.hp2
NA18983.hp1
NA18995.hp1
NA19005.hp1
NA19010.hp2
NA19012.hp2
NA19043.hp1
NA19074.hp2
NA19091.hp1
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.3694-99delC
c.3694-99delC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45511002
chr21:45511011 C
C
 A
A
 193 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(190): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 193 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(190): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-100C>A
c.3694-100C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511011
chr21:45511014 C
C
 G
G
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-97C>G
c.3694-97C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511014
chr21:45511016 C
C
 T
T
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3694-95C>T
c.3694-95C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511016
chr21:45511020 C
C
 CACA
CACA
 190 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(187): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 190 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(187): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-90_3694-88dup
others(3): Show 
c.3694-90_3694-88dupACA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45511020
chr21:45511021 A
A
 C
C
 1 a0003c0015t0001g0168
a0003c0015t0001g0168
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.3694-90A>C
c.3694-90A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511021
chr21:45511023 A
A
 AC
AC
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-84dupC
c.3694-84dupC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45511023
chr21:45511031 TCC
TCC
 T
T
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-79_3694-78del
others(2): Show 
c.3694-79_3694-78delCC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511031
chr21:45511034 A
A
 C
C
 191 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(188): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 191 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(188): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-77A>C
c.3694-77A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511034
chr21:45511045 CA
CA
 C
C
 191 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(188): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 191 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(188): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-65delA
c.3694-65delA
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511045
chr21:45511055 C
C
 CG
CG
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-56_3694-55ins
others(1): Show 
c.3694-56_3694-55insG
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511055
chr21:45511060 CCAT
CCAT
 C
C
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-49_3694-47del
others(3): Show 
c.3694-49_3694-47delATC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45511060
chr21:45511070 C
C
 A
A
 4 a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
others(1): Show 
a0001c0002t0003g0143
a0001c0005t0003g0211
a0001c0055t0003g0152
a0019c0096t0015g0045
 4 HG02280.hp1
HG02735.hp1
NA18953.hp2
others(1): Show 
HG02280.hp1
HG02735.hp1
NA18953.hp2
NA19012.hp1
 intron_variant MODIFIER c.3694-41C>A
c.3694-41C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511070
chr21:45511078 A
A
 C
C
 149 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(146): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 149 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(146): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3694-33A>C
c.3694-33A>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511078
chr21:45511079 C
C
 A
A
 149 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(146): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0016c0042t0001g0118
a0018c0095t0001g0146
a0021c0086t0002g0176
a0022c0068t0010g0004
a0024c0066t0010g0066
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 149 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(146): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3694-32C>A
c.3694-32C>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511079
chr21:45511088 C
C
 T
T
 1 a0004c0100t0001g0039
a0004c0100t0001g0039
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.3694-23C>T
c.3694-23C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511088
chr21:45511090 T
T
 C
C
 3 a0001c0035t0001g0072
a0001c0035t0001g0073
a0004c0100t0001g0039
a0001c0035t0001g0072
a0001c0035t0001g0073
a0004c0100t0001g0039
 3 HG03098.hp1
NA19005.hp2
NA19057.hp2
HG03098.hp1
NA19005.hp2
NA19057.hp2
 intron_variant MODIFIER c.3694-21T>C
c.3694-21T>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 chr21 45511090
chr21:45511090 T
T
 TAC
TAC
 201 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(198): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0003g0143
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0003g0264
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0004t0016g0051
a0001c0005t0003g0211
a0001c0006t0003g0079
a0001c0006t0003g0177
a0001c0006t0003g0180
a0001c0006t0003g0204
a0001c0006t0003g0215
a0001c0006t0003g0259
a0001c0006t0003g0291
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0017t0002g0179
a0001c0017t0003g0205
a0001c0017t0003g0284
a0001c0019t0003g0065
a0001c0019t0003g0139
a0001c0019t0003g0170
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0055t0003g0152
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0073t0003g0034
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0006c0026t0001g0083
a0006c0026t0003g0219
a0006c0028t0003g0059
a0006c0028t0003g0230
a0006c0072t0002g0082
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0009c0016t0002g0252
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0065t0002g0096
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0015c0029t0003g0226
a0015c0029t0003g0227
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0021c0086t0002g0176
a0022c0068t0010g0004
a0023c0085t0002g0106
a0024c0066t0010g0066
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0033c0077t0003g0098
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 201 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(198): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp2
NA19057.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3694-16_3694-15dup
others(2): Show 
c.3694-16_3694-15dupAC
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 40/41 INFO_REALIGN_3_PRIME chr21 45511090
chr21:45511370 G
G
 T
T
 1 a0005c0060t0001g0063
a0005c0060t0001g0063
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.3809+144G>T
c.3809+144G>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511370
chr21:45511498 C
C
 T
T
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3809+272C>T
c.3809+272C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511498
chr21:45511647 G
G
 A
A
 1 a0003c0010t0002g0151
a0003c0010t0002g0151
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.3809+421G>A
c.3809+421G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511647
chr21:45511670 C
C
 G
G
 1 a0001c0004t0016g0051
a0001c0004t0016g0051
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.3809+444C>G
c.3809+444C>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511670
chr21:45511696 A
A
 G
G
 1 a0019c0096t0015g0045
a0019c0096t0015g0045
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3809+470A>G
c.3809+470A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511696
chr21:45511720 C
C
 T
T
 2 a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0149
a0001c0001t0001g0150
 2 HG01261.hp2
HG03130.hp2
HG01261.hp2
HG03130.hp2
 intron_variant MODIFIER c.3810-468C>T
c.3810-468C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511720
chr21:45511723 G
G
 C
C
 2 a0001c0004t0001g0013
a0001c0004t0001g0255
a0001c0004t0001g0013
a0001c0004t0001g0255
 2 HG00438.hp2
HG00544.hp2
HG00438.hp2
HG00544.hp2
 intron_variant MODIFIER c.3810-465G>C
c.3810-465G>C
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511723
chr21:45511770 G
G
 A
A
 156 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
others(153): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0181
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0079t0001g0042
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0023t0002g0138
a0004c0023t0002g0163
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0012c0088t0002g0006
a0013c0051t0001g0195
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0026c0044t0001g0037
a0030c0056t0001g0044
a0034c0075t0001g0116
a0035c0078t0001g0115
 156 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(153): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01515.hp2
HG01891.hp2
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.3810-418G>A
c.3810-418G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511770
chr21:45511813 A
A
 G
G
 175 a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
others(172): Show 
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0052
a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0113
a0001c0001t0001g0120
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0135
a0001c0001t0001g0142
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0175
a0001c0001t0001g0187
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0203
a0001c0001t0001g0228
a0001c0001t0001g0234
a0001c0001t0001g0241
a0001c0001t0001g0243
a0001c0001t0001g0246
a0001c0001t0001g0248
a0001c0001t0001g0250
a0001c0001t0001g0253
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0273
a0001c0001t0001g0277
a0001c0001t0002g0278
a0001c0001t0004g0129
a0001c0001t0004g0223
a0001c0001t0013g0276
a0001c0002t0001g0024
a0001c0002t0001g0080
a0001c0002t0001g0095
a0001c0002t0012g0109
a0001c0003t0001g0005
a0001c0003t0001g0043
a0001c0003t0001g0048
a0001c0003t0001g0081
a0001c0003t0001g0085
a0001c0003t0001g0086
a0001c0003t0001g0101
a0001c0003t0001g0110
a0001c0003t0001g0145
a0001c0003t0001g0153
a0001c0003t0001g0182
a0001c0003t0001g0193
a0001c0003t0001g0221
a0001c0003t0001g0249
a0001c0003t0001g0254
a0001c0003t0001g0261
a0001c0003t0001g0287
a0001c0003t0001g0289
a0001c0003t0008g0166
a0001c0004t0001g0013
a0001c0004t0001g0018
a0001c0004t0001g0022
a0001c0004t0001g0026
a0001c0004t0001g0032
a0001c0004t0001g0064
a0001c0004t0001g0071
a0001c0004t0001g0087
a0001c0004t0001g0090
a0001c0004t0001g0112
a0001c0004t0001g0174
a0001c0004t0001g0213
a0001c0004t0001g0214
a0001c0004t0001g0222
a0001c0004t0001g0225
a0001c0004t0001g0255
a0001c0004t0001g0267
a0001c0004t0001g0271
a0001c0004t0001g0274
a0001c0004t0001g0290
a0001c0005t0006g0173
a0001c0005t0007g0262
a0001c0005t0007g0263
a0001c0011t0001g0009
a0001c0011t0001g0016
a0001c0011t0001g0017
a0001c0011t0001g0050
a0001c0019t0003g0065
a0001c0022t0001g0008
a0001c0022t0001g0021
a0001c0022t0001g0131
a0001c0024t0001g0229
a0001c0024t0001g0256
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0032t0001g0147
a0001c0032t0001g0162
a0001c0035t0001g0072
a0001c0035t0001g0073
a0001c0037t0001g0062
a0001c0037t0001g0157
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0041t0001g0155
a0001c0053t0001g0244
a0001c0061t0001g0257
a0001c0063t0001g0144
a0001c0064t0001g0061
a0001c0069t0005g0038
a0001c0074t0004g0200
a0001c0079t0001g0042
a0001c0080t0004g0057
a0001c0081t0003g0154
a0001c0082t0008g0053
a0001c0087t0001g0055
a0001c0089t0001g0119
a0001c0093t0001g0251
a0001c0098t0001g0007
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0002c0020t0001g0010
a0002c0020t0001g0011
a0002c0067t0001g0041
a0002c0083t0001g0237
a0002c0103t0001g0136
a0003c0009t0001g0054
a0003c0009t0001g0167
a0003c0009t0001g0171
a0003c0009t0001g0247
a0003c0015t0001g0168
a0003c0015t0001g0189
a0003c0015t0001g0202
a0003c0046t0001g0002
a0003c0047t0001g0069
a0004c0091t0001g0056
a0004c0100t0001g0039
a0005c0036t0001g0245
a0005c0036t0001g0292
a0005c0058t0001g0165
a0005c0060t0001g0063
a0007c0034t0001g0141
a0007c0034t0001g0282
a0008c0018t0005g0067
a0008c0018t0005g0130
a0008c0018t0005g0132
a0008c0101t0005g0027
a0009c0016t0001g0084
a0009c0016t0001g0209
a0010c0014t0001g0265
a0010c0014t0001g0275
a0010c0014t0001g0279
a0011c0040t0001g0046
a0011c0040t0001g0076
a0013c0051t0001g0195
a0013c0102t0004g0196
a0014c0039t0009g0197
a0014c0039t0009g0198
a0016c0042t0001g0118
a0018c0095t0001g0146
a0019c0096t0015g0045
a0020c0094t0011g0075
a0026c0044t0001g0037
a0027c0070t0001g0012
a0028c0097t0001g0036
a0030c0056t0001g0044
a0031c0092t0011g0190
a0034c0075t0001g0116
a0035c0078t0001g0115
a0036c0048t0004g0184
a0037c0049t0004g0183
 175 HG00099.hp2
HG00280.hp2
HG00423.hp1
others(172): Show 
HG00099.hp2
HG00280.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp2
HG01891.hp1
HG01928.hp2
HG01943.hp1
HG01993.hp2
HG02004.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18949.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18983.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19002.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3810-375A>G
c.3810-375A>G
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511813
chr21:45511852 G
G
 A
A
 17 a0001c0001t0001g0191
a0001c0004t0016g0051
a0001c0027t0001g0019
others(14): Show 
a0001c0001t0001g0191
a0001c0004t0016g0051
a0001c0027t0001g0019
a0001c0027t0001g0020
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0063t0001g0144
a0001c0074t0004g0200
a0001c0079t0001g0042
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0019c0096t0015g0045
a0030c0056t0001g0044
a0036c0048t0004g0184
a0037c0049t0004g0183
 17 HG02258.hp1
HG02280.hp1
HG02486.hp1
others(14): Show 
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.3810-336G>A
c.3810-336G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511852
chr21:45511887 G
G
 A
A
 1 a0001c0062t0002g0097
a0001c0062t0002g0097
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.3810-301G>A
c.3810-301G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45511887
chr21:45512075 C
C
 T
T
 9 a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
others(6): Show 
a0001c0038t0004g0028
a0001c0038t0004g0029
a0001c0074t0004g0200
a0002c0012t0004g0040
a0002c0012t0004g0049
a0002c0012t0004g0058
a0002c0012t0004g0199
a0036c0048t0004g0184
a0037c0049t0004g0183
 9 HG02572.hp1
HG02622.hp1
HG02622.hp2
others(6): Show 
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.3810-113C>T
c.3810-113C>T
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45512075
chr21:45512174 G
G
 A
A
 1 a0011c0040t0001g0076
a0011c0040t0001g0076
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.3810-14G>A
c.3810-14G>A
COL18A1 ENSG00000182871.16 transcript ENST00000651438.1 protein_coding 41/41 chr21 45512174

  • 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)
​

IGV Connection Help

IGV must be running on your computer before clicking the button.

If your browser shows the "cannot open the page" error, launch IGV and allow access via port 60151:

  1. Open IGV on your computer
  2. In IGV's menu bar: View → Preferences…
  3. Click on the "Advanced" tab
  4. Check "Enable port"
  5. Set the port number to 60151
  6. Click OK to save

For more details, please refer to Information → FAQ.